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+ Genes 718

Genes:
A1BG, ABCA7, ABHD17A, ABHD8, AC024592.12, ACP5, ACPT, ACSBG2, ACTL9, ACTN4, ADAMTS10, ADAMTSL5, ADAT3, ADCK4, AKAP8L, ALDH16A1, AMH, ANGPTL4, ANKLE1, ANKRD24, ANKRD27, ANO8, AP1M1, AP1M2, AP3D1, APBA3, APC2, APLP1, APOE, ARHGAP33, ARHGEF18, ARID3A, ARRDC5, ASPDH, ATF5, ATP1A3, ATP4A, ATP8B3, AURKC, AXL, AZU1, B3GNT3, B3GNT8, B9D2, BCAT2, BCKDHA, BIRC8, BRSK1, BTBD2, C19orf10, C19orf12, C19orf24, C19orf26, C19orf40, C19orf44, C19orf45, C19orf48, C19orf53, C19orf54, C19orf55, C19orf57, C19orf71, C19orf73, C2CD4C, C3, C5AR1, CABP5, CACNA1A, CACTIN, CALR3, CAPN12, CAPS, CARD8, CATSPERD, CATSPERG, CBLC, CC2D1A, CCDC105, CCDC106, CCDC114, CCDC124, CCDC61, CCDC8, CCDC9, CCDC94, CCL25, CCNE1, CD177, CD209, CD320, CD33, CD37, CDKN2D, CEACAM1, CEACAM18, CEACAM21, CEACAM5, CEACAM6, CEACAM8, CEBPA, CEP89, CERS4, CGB, CGB2, CGB5, CGB8, CHAF1A, CHERP, CHST8, CIB3, CIRBP, CKM, CLASRP, CLDND2, CLEC17A, CLEC4G, CLEC4M, CLPTM1, CNN2, CNOT3, COL5A3, COLGALT1, COPE, CPAMD8, CRB3, CTB-102L5.4, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, CYP4F11, CYP4F12, CYP4F2, CYP4F22, CYP4F3, DENND1C, DKFZP761J1410, DMKN, DMRTC2, DMWD, DNAAF3, DNAJB1, DNASE2, DNM2, DNMT1, DOCK6, DOT1L, DPF1, DPY19L3, DUS3L, EBI3, ECH1, EEF2, EHD2, EIF3G, ELSPBP1, EML2, EMR1, EMR2, EMR3, EPN1, EPS8L1, ERCC1, ETFB, EVI5L, EXOSC5, F2RL3, FAM129C, FAM187B, FAM71E2, FAM83E, FBN3, FBXL12, FBXO17, FCAR, FCER2, FCGBP, FCHO1, FDX1L, FFAR1, FFAR3, FIZ1, FLT3LG, FOXA3, FPR1, FPR3, FSTL3, FTL, FUT2, FUT3, FUT5, FUT6, FUZ, FXYD3, GALP, GCDH, GDF15, GGN, GIPC1, GLTSCR1, GLTSCR2, GNA11, GNA15, GNG8, GP6, GPATCH1, GPR108, GPX4, GRAMD1A, GRIN3B, GRWD1, GSK3A, GTPBP3, GYS1, GZMM, HAUS8, HCN2, HCST, HDGFRP2, HIF3A, HIPK4, HMHA1, HNRNPM, HNRNPUL1, HOMER3, HSD17B14, HSH2D, HSPBP1, ICAM3, IFI30, IL11, IL27RA, IL4I1, ILF3, ILVBL, INSL3, INSR, IRGQ, JSRP1, KANK3, KCNA7, KCNK6, KCTD15, KDM4B, KEAP1, KHSRP, KIAA0355, KIAA1683, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KIRREL2, KISS1R, KLF1, KLF16, KLHL26, KLK1, KLK2, KLK3, KLK4, KLK5, KLK6, KLK7, KMT2B, KPTN, KRI1, LAIR1, LAIR2, LDLR, LENG8, LENG9, LGI4, LHB, LIG1, LILRA1, LILRA2, LILRA4, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIN37, LMNB2, LMTK3, LONP1, LPAR2, LPPR3, LRFN3, LRP3, LRRC25, LRRC4B, LRRC8E, LSR, LTBP4, LYPD4, LYPD5, MAMSTR, MAN2B1, MAP1S, MAP2K2, MAP3K10, MARCH2, MARK4, MAST1, MAST3, MATK, MAU2, MBD3L1, MBD3L2, MBD3L4, MBD3L5, MBOAT7, MCOLN1, MEGF8, MIDN, MOB3A, MPND, MRPL4, MRPL54, MUC16, MUM1, MVB12A, MYBPC2, MYH14, MYO9B, MYPOP, NACC1, NANOS3, NAPSA, NCLN, NCR1, NDUFB7, NDUFS7, NFIC, NFKBID, NKPD1, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, NOTCH3, NPAS1, NPHS1, NR1H2, NTF4, NTN5, NUCB1, NUDT19, NUMBL, NUP62, NWD1, OCEL1, ODF3L2, OLFM2, OR10H1, OR10H2, OR10H3, OR10H5, OR1I1, OR1M1, OR2Z1, OR7A10, OR7A17, OR7A5, OR7C1, OR7C2, OR7D2, OR7D4, OR7E24, OR7G3, OSCAR, PALM, PAPL, PDE4C, PEG3, PEPD, PEX11G, PGLS, PIAS4, PIH1D1, PIK3R2, PIP5K1C, PKN1, PLA2G4C, PLEKHA4, PLEKHG2, PLIN3, PLIN4, PLIN5, PLK5, PNPLA6, POLD1, POLR2E, POLRMT, PPAP2C, PPP1R12C, PPP1R15A, PPP2R1A, PRAM1, PRKCG, PRKD2, PRR12, PRR22, PRR24, PRSS57, PRX, PSG1, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PSG9, PTGER1, PTPRH, PTPRS, PVR, PVRL2, QPCTL, RAB3A, RAB8A, RASGRP4, RASIP1, RAVER1, RDH13, REXO1, RFPL4A, RFX1, RFX2, RGL3, RGS9BP, RHPN2, RNF126, RPS15, RPSAP58, RUVBL2, RYR1, S1PR2, S1PR5, SAE1, SAFB2, SBK2, SBNO2, SCAF1, SCN1B, SDHAF1, SEMA6B, SGTA, SH3GL1, SHANK1, SHC2, SHD, SHKBP1, SIGLEC10, SIGLEC11, SIGLEC12, SIGLEC14, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC8, SIGLEC9, SIN3B, SIPA1L3, SIRT6, SIX5, SLC1A5, SLC1A6, SLC35E1, SLC39A3, SLC44A2, SLC7A9, SMARCA4, SNAPC2, SPIB, SPINT2, SPTBN4, SSC5D, STAP2, STK11, STRN4, STXBP2, SUGP2, SULT2A1, SULT2B1, SYMPK, SYNE4, SYT3, TARM1, TBC1D17, TBXA2R, TCF3, TECR, TEX101, TGFB1, THEG, TICAM1, TJP3, TLE2, TLE6, TMC4, TMEM143, TMEM145, TMEM150B, TMEM161A, TMEM259, TMEM38A, TMEM59L, TMEM86B, TMEM91, TMIGD2, TMPRSS9, TNFSF14, TNNT1, TOMM40, TRAPPC5, TRAPPC6A, TRMT1, TSEN34, TSHZ3, TSKS, TTYH1, TUBB4A, TULP2, TYK2, U2AF2, UBA2, UBE2S, UBXN6, UNC13A, UQCRFS1, URI1, USE1, USHBP1, USP29, VAV1, VN1R1, VN1R4, VRK3, VSIG10L, VSTM1, WDR18, WDR62, WDR83, WDR87, WDR88, WTIP, XAB2, XRCC1, YIF1B, ZC3H4, ZFP28, ZFR2, ZGLP1, ZIM2, ZIM3, ZNF100, ZNF101, ZNF112, ZNF132, ZNF135, ZNF146, ZNF154, ZNF155, ZNF160, ZNF17, ZNF175, ZNF177, ZNF180, ZNF208, ZNF211, ZNF221, ZNF222, ZNF223, ZNF224, ZNF225, ZNF229, ZNF233, ZNF234, ZNF235, ZNF256, ZNF260, ZNF264, ZNF266, ZNF274, ZNF28, ZNF283, ZNF284, ZNF285, ZNF30, ZNF302, ZNF304, ZNF317, ZNF324, ZNF331, ZNF333, ZNF347, ZNF350, ZNF358, ZNF382, ZNF404, ZNF414, ZNF415, ZNF417, ZNF418, ZNF419, ZNF426, ZNF429, ZNF432, ZNF44, ZNF440, ZNF441, ZNF443, ZNF446, ZNF45, ZNF470, ZNF471, ZNF480, ZNF490, ZNF492, ZNF497, ZNF507, ZNF524, ZNF525, ZNF527, ZNF529, ZNF530, ZNF534, ZNF543, ZNF544, ZNF548, ZNF549, ZNF550, ZNF552, ZNF554, ZNF555, ZNF557, ZNF561, ZNF565, ZNF566, ZNF567, ZNF57, ZNF573, ZNF577, ZNF578, ZNF579, ZNF583, ZNF585A, ZNF587, ZNF600, ZNF606, ZNF607, ZNF610, ZNF611, ZNF613, ZNF614, ZNF615, ZNF625, ZNF628, ZNF653, ZNF665, ZNF667, ZNF675, ZNF676, ZNF681, ZNF69, ZNF699, ZNF700, ZNF701, ZNF708, ZNF709, ZNF714, ZNF737, ZNF738, ZNF749, ZNF763, ZNF765, ZNF77, ZNF772, ZNF787, ZNF788, ZNF792, ZNF799, ZNF805, ZNF808, ZNF813, ZNF814, ZNF816, ZNF83, ZNF836, ZNF837, ZNF841, ZNF844, ZNF846, ZNF880, ZNF90, ZNF91, ZNF98, ZNF99, ZNRF4, ZSCAN1, ZSCAN5A, ZSCAN5B,

+ Genes associated with diseases 120

Genes at Omim

ABCA7, ACP5, ACPT, ACTN4, ADAMTS10, ADAT3, AMH, ANGPTL4, AP3D1, APC2, APOE, ARHGEF18, ATP1A3, AURKC, B9D2, BCAT2, BCKDHA, C19orf12, C3, CACNA1A, CC2D1A, CCDC114, CCDC8, CD209, CD320, CEBPA, CHST8, CLEC4M, COLGALT1, CPAMD8, CYP2A6, CYP2B6, CYP4F22, DNAAF3, DNM2, DNMT1, DOCK6, EEF2, ERCC1, ETFB, FDX1L, FTL, FUT2, FUT3, FUT6, FUZ, GCDH, GNA11, GP6, GPX4, GTPBP3, GYS1, INSL3, INSR, KIR3DL1, KISS1R, KLF1, KLK1, KLK4, KMT2B, KPTN, LDLR, LGI4, LHB, LMNB2, LONP1, LTBP4, MAN2B1, MAP2K2, MAST1, MBOAT7, MCOLN1, MEGF8, MYH14, MYO9B, NACC1, NDUFS7, NLRP12, NOTCH3, NPHS1, NTF4, NUP62, PEPD, PIK3R2, PIP5K1C, PLEKHG2, PNPLA6, POLD1, PPP2R1A, PRKCG, PRX, RGS9BP, RYR1, S1PR2, SCN1B, SDHAF1, SH3GL1, SIPA1L3, SIX5, SLC7A9, SMARCA4, SPINT2, SPTBN4, STK11, STXBP2, SULT2B1, SYNE4, TBXA2R, TCF3, TECR, TGFB1, TICAM1, TLE6, TNNT1, TRMT1, TSEN34, TUBB4A, TYK2, WDR62, XRCC1,
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
ACP5 Spondyloenchondrodysplasia with immune dysregulation, 607944 (3)
ACPT Amelogenesis imperfecta, type IJ, 617297 (3)
ACTN4 Glomerulosclerosis, focal segmental, 1, 603278 (3)
ADAMTS10 Weill-Marchesani syndrome 1, recessive, 277600 (3)
ADAT3 Mental retardation, autosomal recessive 36, 615286 (3)
AMH Persistent Mullerian duct syndrome, type I, 261550 (3)
ANGPTL4 Plasma triglyceride level QTL, low, 615881 (3)
AP3D1 ?Hermansky-Pudlak syndrome 10, 617050 (3)
APC2 ?Sotos syndrome 3, 617169 (3)
APOE Alzheimer disease-2, 104310 (3)
Hyperlipoproteinemia, type III, 617347 (3)
Lipoprotein glomerulopathy, 611771 (3)
Sea-blue histiocyte disease, 269600 (3)
{?Macular degeneration, age-related}, 603075 (3)
{Coronary artery disease, severe, susceptibility to}, 617347 (3)
ARHGEF18 Retinitis pigmentosa 78, 617433 (3)
ATP1A3 Alternating hemiplegia of childhood 2, 614820 (3)
CAPOS syndrome, 601338 (3)
Dystonia-12, 128235 (3)
AURKC Spermatogenic failure 5, 243060 (3)
B9D2 Joubert syndrome 34, 614175 (3)
?Meckel syndrome 10, 614175 (3)
BCAT2 ?Hypervalinemia or hyperleucine-isoleucinemia (1)
BCKDHA Maple syrup urine disease, type Ia, 248600 (3)
C19orf12 Neurodegeneration with brain iron accumulation 4, 614298 (3)
?Spastic paraplegia 43, autosomal recessive, 615043 (3)
C3 {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3)
C3 deficiency, 613779 (3)
{Macular degeneration, age-related, 9}, 611378 (3)
CACNA1A Epileptic encephalopathy, early infantile, 42, 617106 (3)
Episodic ataxia, type 2, 108500 (3)
Migraine, familial hemiplegic, 1, 141500 (3)
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)
Spinocerebellar ataxia 6, 183086 (3)
CC2D1A Mental retardation, autosomal recessive 3, 608443 (3)
CCDC114 Ciliary dyskinesia, primary, 20, 615067 (3)
CCDC8 3-M syndrome 3, 614205 (3)
CD209 {HIV type 1, susceptibility to}, 609423 (3)
{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
{Dengue fever, protection against}, 614371 (3)
CD320 Methylmalonic aciduria, transient, due to transcobalamin receptor defect, 613646 (3)
CEBPA Leukemia, acute myeloid, somatic, 601626 (3)
?Leukemia, acute myeloid, 601626 (3)
CHST8 ?Peeling skin syndrome 3, 616265 (3)
CLEC4M SARS infection, protection against (2)
COLGALT1 Brain small vessel disease 3, 618360 (3)
CPAMD8 Anterior segment dysgenesis 8, 617319 (3)
CYP2A6 {Lung cancer, resistance to}, 211980 (3)
Coumarin resistance, 122700 (3)
{Nicotine addiction, protection from}, 188890 (3)
CYP2B6 Efavirenz, poor metabolism of, 614546 (3)
{Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3)
CYP4F22 Ichthyosis, congenital, autosomal recessive 5, 604777 (3)
DNAAF3 Ciliary dyskinesia, primary, 2, 606763 (3)
DNM2 Centronuclear myopathy 1, 160150 (3)
Charcot-Marie-Tooth disease, axonal type 2M, 606482 (3)
Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3)
Lethal congenital contracture syndrome 5, 615368 (3)
DNMT1 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3)
Neuropathy, hereditary sensory, type IE, 614116 (3)
DOCK6 Adams-Oliver syndrome 2, 614219 (3)
EEF2 ?Spinocerebellar ataxia 26, 609306 (3)
ERCC1 Cerebrooculofacioskeletal syndrome 4, 610758 (3)
ETFB Glutaric acidemia IIB, 231680 (3)
FDX1L Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900 (3)
FTL Hyperferritinemia-cataract syndrome, 600886 (3)
L-ferritin deficiency, dominant and recessive, 615604 (3)
Neurodegeneration with brain iron accumulation 3, 606159 (3)
FUT2 {Norwalk virus infection, resistance to} (3)
{Vitamin B12 plasma level QTL1}, 612542 (3)
[Bombay phenotype, digenic], 616754 (3)
FUT3 [Blood group, Lewis] (3)
FUT6 Fucosyltransferase 6 deficiency, 613852 (3)
FUZ {Neural tube defects, susceptibility to}, 182940 (3)
GCDH Glutaricaciduria, type I, 231670 (3)
GNA11 Hypocalcemia, autosomal dominant 2, 615361 (3)
Hypocalciuric hypercalcemia, type II, 145981 (3)
GP6 Bleeding disorder, platelet-type, 11, 614201 (3)
GPX4 Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3)
GTPBP3 Combined oxidative phosphorylation deficiency 23, 616198 (3)
GYS1 Glycogen storage disease 0, muscle, 611556 (3)
INSL3 Cryptorchidism, 219050 (3)
INSR Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3)
Leprechaunism, 246200 (3)
Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3)
Rabson-Mendenhall syndrome, 262190 (3)
KIR3DL1 {AIDS, delayed/rapid progression to}, 609423 (3)
KISS1R Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (3)
?Precocious puberty, central, 1, 176400 (3)
KLF1 Blood group--Lutheran inhibitor, 111150 (3)
Dyserythropoietic anemia, congenital, type IV, 613673 (3)
[Hereditary persistence of fetal hemoglobin], 613566 (3)
KLK1 [Kallikrein, decreased urinary activity of], 615953 (3)
KLK4 Amelogenesis imperfecta, type IIA1, 204700 (3)
KMT2B Dystonia 28, childhood-onset, 617284 (3)
KPTN Mental retardation, autosomal recessive 41, 615637 (3)
LDLR Hypercholesterolemia, familial, 143890 (3)
LDL cholesterol level QTL2, 143890 (3)
LGI4 Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3)
LHB Hypogonadotropic hypogonadism 23 with or without anosmia, 228300 (3)
LMNB2 {Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3)
?Epilepsy, progressive myoclonic, 9, 616540 (3)
LONP1 CODAS syndrome, 600373 (3)
LTBP4 Cutis laxa, autosomal recessive, type IC, 613177 (3)
MAN2B1 Mannosidosis, alpha-, types I and II, 248500 (3)
MAP2K2 Cardiofaciocutaneous syndrome 4, 615280 (3)
MAST1 Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273 (3)
MBOAT7 Mental retardation, autosomal recessive 57, 617188 (3)
MCOLN1 Mucolipidosis IV, 252650 (3)
MEGF8 Carpenter syndrome 2, 614976 (3)
MYH14 Deafness, autosomal dominant 4A, 600652 (3)
?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 (3)
MYO9B {Celiac disease, susceptibility to, 4}, 609753 (3)
NACC1 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 (3)
NDUFS7 Mitochondrial complex I deficiency, nuclear type 3, 618224 (3)
NLRP12 Familial cold autoinflammatory syndrome 2, 611762 (3)
NOTCH3 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 (3)
Lateral meningocele syndrome, 130720 (3)
?Myofibromatosis, infantile 2, 615293 (3)
NPHS1 Nephrotic syndrome, type 1, 256300 (3)
NTF4 Glaucoma 1, open angle, 1O, 613100 (3)
NUP62 Striatonigral degeneration, infantile, 271930 (3)
PEPD Prolidase deficiency, 170100 (3)
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 (3)
PIP5K1C Lethal congenital contractural syndrome 3, 611369 (3)
PLEKHG2 Leukodystrophy and acquired microcephaly with or without dystonia, 616763 (3)
PNPLA6 Boucher-Neuhauser syndrome, 215470 (3)
Oliver-McFarlane syndrome, 275400 (3)
?Laurence-Moon syndrome, 245800 (3)
Spastic paraplegia 39, autosomal recessive, 612020 (3)
POLD1 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 (3)
{Colorectal cancer, susceptibility to, 10}, 612591 (3)
PPP2R1A Mental retardation, autosomal dominant 36, 616362 (3)
PRKCG Spinocerebellar ataxia 14, 605361 (3)
PRX Charcot-Marie-Tooth disease, type 4F, 614895 (3)
Dejerine-Sottas disease, 145900 (3)
RGS9BP Bradyopsia, 608415 (3)
RYR1 Central core disease, 117000 (3)
{Malignant hyperthermia susceptibility 1}, 145600 (3)
King-Denborough syndrome, 145600 (3)
Minicore myopathy with external ophthalmoplegia, 255320 (3)
Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3)
S1PR2 Deafness, autosomal recessive 68, 610419 (3)
SCN1B Atrial fibrillation, familial, 13, 615377 (3)
Brugada syndrome 5, 612838 (3)
Cardiac conduction defect, nonspecific, 612838 (3)
Epilepsy, generalized, with febrile seizures plus, type 1, 604233 (3)
Epileptic encephalopathy, early infantile, 52, 617350 (3)
SDHAF1 Mitochondrial complex II deficiency, 252011 (3)
SH3GL1 Leukemia, acute myeloid, 601626 (1)
SIPA1L3 ?Cataract 45, 616851 (3)
SIX5 Branchiootorenal syndrome 2, 610896 (3)
SLC7A9 Cystinuria, 220100 (3)
SMARCA4 Coffin-Siris syndrome 4, 614609 (3)
{Rhabdoid tumor predisposition syndrome 2}, 613325 (3)
SPINT2 Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3)
SPTBN4 Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 (3)
STK11 Melanoma, malignant, somatic (3)
Pancreatic cancer, somatic, 260350 (3)
Peutz-Jeghers syndrome, 175200 (3)
Testicular tumor, somatic, 273300 (3)
STXBP2 Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3)
SULT2B1 Ichthyosis, congenital, autosomal recessive 14, 617571 (3)
SYNE4 Deafness, autosomal recessive 76, 615540 (3)
TBXA2R {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3)
TCF3 Agammaglobulinemia 8, autosomal dominant, 616941 (3)
TECR Mental retardation, autosomal recessive 14, 614020 (3)
TGFB1 Camurati-Engelmann disease, 131300 (3)
Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 (3)
{Cystic fibrosis lung disease, modifier of}, 219700 (3)
TICAM1 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 (3)
TLE6 Preimplantation embryonic lethality, 616814 (3)
TNNT1 Nemaline myopathy 5, Amish type, 605355 (3)
TRMT1 Mental retardation, autosomal recessive 68, 618302 (3)
TSEN34 ?Pontocerebellar hypoplasia type 2C, 612390 (3)
TUBB4A Leukodystrophy, hypomyelinating, 6, 612438 (3)
Dystonia 4, torsion, autosomal dominant, 128101 (3)
TYK2 Immunodeficiency 35, 611521 (3)
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)
XRCC1 ?Spinocerebellar ataxia, autosomal recessive 26, 617633 (3)

Genes at Clinical Genomics Database

ACP5, ACTN4, ADAMTS10, ADCK4, AMH, APOE, ATP1A3, AURKC, B9D2, BCKDHA, C3, CACNA1A, CALR3, CC2D1A, CCDC114, CCDC8, CD320, CEBPA, CHST8, CYP2A6, CYP2B6, CYP4F2, CYP4F22, DNM2, DNMT1, DOCK6, ERCC1, ETFB, FTL, FUT3, FUT6, FUZ, GCDH, GNA11, GP6, GPX4, GTPBP3, GYS1, INSL3, INSR, KISS1R, KLF1, KLK4, KPTN, LDLR, LHB, LMNB2, LONP1, LTBP4, MAN2B1, MAP2K2, MCOLN1, MEGF8, MYH14, NDUFS7, NLRP12, NLRP7, NOTCH3, NPHS1, NTF4, NUP62, PEPD, PIK3R2, PIP5K1C, PLEKHG2, PNPLA6, POLD1, PPP2R1A, PRKCG, PRX, RGS9BP, RYR1, S1PR2, SCN1B, SDHAF1, SIPA1L3, SIX5, SLC7A9, SMARCA4, SPINT2, STK11, STXBP2, SYNE4, TBXA2R, TCF3, TECR, TGFB1, TICAM1, TLE6, TNNT1, TSEN34, TUBB4A, TYK2, WDR62, ZIM2, ZNF480, ZNF565,
ACP5 Spondyloenchondrodysplasia with immune dysregulation
ACTN4 Focal segmental glomerulosclerosis 1
ADAMTS10 Weill-Marchesani syndrome 1
ADCK4 Nephrotic syndrome, type 9
AMH Persistent Mullerian duct syndrome, type I
APOE Dysbetalipoproteinemia, familial (Hyperlipoproteinemia, type III)
Lipoprotein glomerulopathy
Sea-blue histiocyte disease
ATP1A3 Alternating hemiplegia of childhood 2
AURKC Spermatogenic failure 5
B9D2 Meckel syndrome 10
BCKDHA Maple syrup urine disease, type Ia
C3 Complement component 3 deficiency, autosomal recessive
Hemolytic uremic syndrome, atypical, susceptibility to, 5
CACNA1A Episodic ataxia, type 2
Migraine, familial hemiplegic 1
CALR3 Cardiomyopathy, familial hypertrophic, 19
CC2D1A Mental retardation, autosomal recessive 3
CCDC114 Ciliary dyskinesia, primary, 20
CCDC8 Three M syndrome 3
CD320 Methylmalonic aciduria due to transcobalamin receptor defect
CEBPA Acute myeloid leukemia, familial
CHST8 Peeling skin syndrome 3
CYP2A6 CYP2A6-related drug metabolism
CYP2B6 Efavirenz, poor metabolism of
CYP4F2 Warfarin metabolism
CYP4F22 Ichthyosis, congenital, autosomal recessive 5
DNM2 Charcot-Marie-Tooth disease, dominant intermediate B
Charcot-Marie-Tooth disease, axonal, type 2M
Myopathy, centronuclear
Lethal akinesia and musculoskeletal abnormalities, with brain and retinal hemorrhages, autosomal recessive
DNMT1 Neuropathy, hereditary sensory, type IE
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
DOCK6 Adams-Oliver syndrome 2
ERCC1 Cerebrooculofacioskeletal syndrome 4
ETFB Multiple acyl-CoA dehydrogenase deficiency
Glutaric aciduria II
FTL L-ferritin deficiency
Neurodegeneration with brain iron accumulation 3
Hyperferritinemia-cataract syndrome
FUT3 Blood group, Lewis
FUT6 Fucosyltransferase 6 deficiency
FUZ Neural tube defects, susceptibility to
GCDH Glutaric aciduria, type I
GNA11 Hypocalcemia 2, autosomal dominant
Hypocalciuric hypercalcemia, autosomal dominant
GP6 Bleeding disorder, platelet-type, 11
GPX4 Sedaghatian-type spondylometaphyseal dysplasia
GTPBP3 Combined oxidative phosphorylation deficiency 23
GYS1 Glycogen storage disease, type 0, muscle
INSL3 Cryptorchidism
INSR Hyperinsulinemic hypoglycemia, familial, 5
Rabson-Mendenhall syndrome
Donohoe syndrome
KISS1R Hypogonadotropic hypogonadism 8 with or without anosmia
KLF1 Anemia, dyserythropoietic congenital, type IV
Blood group, Lutheran inhibitor
KLK4 Amelogenesis imperfecta, type IIA1
KPTN Mental retardation, autosomal recessive 41
LDLR Hypercholesterolemia, familial
LHB Hypogonadotropic hypogonadism 23 with or without anosmia
LMNB2 Liopdystrophy, partial, acquired
Epilepsy, progressive myoclonic, 9
LONP1 Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies (CODAS) syndrome
LTBP4 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MAN2B1 Mannosidosis, alpha B, lysosomal
MAP2K2 Cardiofaciocutaneous syndrome
MCOLN1 Mucolipidosis IV
MEGF8 Carpenter syndrome 2
MYH14 Deafness, autosomal dominant 4
Deafness, autosomal dominant 4B
Peripheral neuropathy, myopathy, hoarseness, and hearing loss
NDUFS7 Mitochondrial complex I deficiency
Leigh syndrome
NLRP12 Familial cold autoinflammatory syndrome 2
NLRP7 Hydatidiform mole, recurrent, 1
NOTCH3 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL1)
NPHS1 Nephrotic syndrome, type 1
NTF4 Glaucoma 1, open angle, O
NUP62 Striatonigral degeneration, infantile
PEPD Prolidase deficiency
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIP5K1C Lethal congenital contractural syndrome 3
PLEKHG2 Leukodystrophy and acquired microcephaly with or without dystonia
PNPLA6 Boucher-Neuhauser syndrome
Laurence-Moon syndrome
Oliver-McFarlane syndrome
POLD1 Colorectal cancer, susceptibility to, 10
PPP2R1A Mental retardation, autosomal dominant 36
PRKCG Spinocerebellar ataxia 14
PRX Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type 4F
RGS9BP Bradyopsia
RYR1 Malignant hyperthermia, susceptibility 1
Central core disease
Minicore myopathy
Multicore myopathy
Minicore myopathy with external ophthalmoplegia
Centronuclear myopathy (individuals with these conditions may also be at risk of malignant hyperthermia)
S1PR2 Deafness, autosomal recessive 68
SCN1B Atrial fibrillation, familial 13
Brugada syndrome 5
SDHAF1 Mitochondrial complex II deficiency
SIPA1L3 Cataract 45
SIX5 Branchiootorenal syndrome 2
SLC7A9 Cystinuria
SMARCA4 Rhabdoid tumor predisposition syndrome 2
SPINT2 Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies
STK11 Peutz-Jeghers syndrome
STXBP2 Hemophagocytic lymphohistiocytosis, familial 5
SYNE4 Deafness, autosomal recessive, 76
TBXA2R Bleeding disorder, platelet-type 13, susceptibility to
TCF3 Agammaglobulinemia 8, autosomal dominant
TECR Mental retardation, autosomal recessive 14
TGFB1 Camurati-Engelmann disease
TICAM1 Herpes simplex encephalitis, susceptibility to, 4
TLE6 Preimplantation embryonic lethality
TNNT1 Nemaline myopathy 5
TSEN34 Pontocerebellar hypoplasia type 2C
TUBB4A Dystonia 4, torsion, autosomal dominant
Leukodystrophy, hypomyelinating, 6
TYK2 Immunodeficiency 35
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
ZIM2 Schizophrenia
ZNF480 Schizophrenia
ZNF565 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 3700
Number of Genes: 718

Export to: CSV

NUMBL
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs571622741
dbSNP Clinvar 		41173457 1484.13 C T . 0/1 84 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None NUMBL|0.139631884|44.46%

KIR2DL1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs75232650
dbSNP Clinvar 		55290108 318.54 A G . 1/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.17 0.00 None None None None None None KIR3DL1|0.000640018|97.61%,KIR2DL4|0.000718329|97.16%,KIR2DL3|0.000872917|96.18%,KIR2DL1|0.000975472|95.6%

ZNF525
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs570381955
dbSNP Clinvar 		53884180 1484.13 C A . 0/1 199 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None ZNF525|0.001023223|95.29%
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs532223829
dbSNP Clinvar 		55264299 140.291 A G . 0/1 45 None None None 0.00020 0.00020 None None None None None None KIR3DL1|0.000640018|97.61%,KIR2DL4|0.000718329|97.16%,KIR2DL3|0.000872917|96.18%

DNM2
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs200968756
dbSNP Clinvar 		10940929 1048.91 G A . 0/1 70 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None DNM2|0.62503169|10.95%
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs187769974
dbSNP Clinvar 		7542041 993.464 G C . 0/1 58 None None None 0.00020 0.00020 0.95 0.01 0.34183 T None None None None PEX11G|0.015174182|77.03%

MUC16
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs79920615
dbSNP Clinvar 		9021096 665.875 G A . 0/1 109 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None MUC16|0.001379523|93.47%
View grc14378018_exome 19 rs563734214
dbSNP Clinvar 		8999429 1484.13 G T,A . 0/1 322 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None MUC16|0.001379523|93.47%

APLP1
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs138562956
dbSNP Clinvar 		36370092 1484.13 C T,A . 0/1 64 STOP_GAINED HIGH None 0.00020 0.00020 0.00162 None None None None None None APLP1|0.135630209|45.02%

C19orf71
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs573806279
dbSNP Clinvar 		3539220 1484.13 G A,C . 0/1 79 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None MFSD12|0.019610607|74.37%,C19orf71|0.002236231|90.32%
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs535458702
dbSNP Clinvar 		58220494 1484.13 C T,A . 0/1 121 START_GAINED LOW None 0.00020 0.00020 None None None None None None ZNF551|0.000627185|97.7%,ZNF154|0.001299459|93.92%
View grc14378018_exome 19 rs545548827
dbSNP Clinvar 		55859094 147.149 C T . 0/1 48 None None None 0.00020 0.00020 None None None None None None SUV420H2|0.012688919|78.75%
View grc14378018_exome 19 rs56282345
dbSNP Clinvar 		3630507 1484.13 C T . 0/1 84 None None None 0.00020 0.00020 None None None None None None PIP5K1C|0.05958372|59.99%

PLIN4
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs62115190
dbSNP Clinvar 		4511730 1484.13 T C . 1/1 129 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 1.00 0.00 None None None None None None PLIN4|0.000829699|96.5%

MBD3L5
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs80072426
dbSNP Clinvar 		7032897 16.8701 G T . 1/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.02 0.96 None None None None None None MBD3L5|0.000629367|97.69%

ZNF417
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs3745133
dbSNP Clinvar 		58420699 1484.13 C A . 0/1 186 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.33750 0.00 0.86 None None None None None None ZNF417|0.000872749|96.19%

UBXN6
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs141014666
dbSNP Clinvar 		4446621 1484.13 C T . 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.00131 0.00 0.78 None None None None None None UBXN6|0.016044288|76.45%

MAST1
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs141860344
dbSNP Clinvar 		12984174 1484.13 G A . 0/1 165 SYNONYMOUS_CODING LOW None 0.00040 0.00040 0.00054 None None None None None None MAST1|0.140767486|44.3%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs13867
dbSNP Clinvar 		417014 1484.13 A C . 1/1 67 None None None 0.00040 0.88420 None None None None None None SHC2|0.081238687|54.94%

GCDH
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs140134376
dbSNP Clinvar 		13008204 1484.13 C T,G,A . 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.00046 1.00 0.03 None None None None None None GCDH|0.056805161|60.73%

OR10H1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs148327766
dbSNP Clinvar 		15918500 1484.13 G A . 0/1 113 SYNONYMOUS_CODING LOW None 0.00040 0.06050 0.08144 None None None None None None OR10H1|0.014569247|77.45%

PSG9
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs8101210
dbSNP Clinvar 		43773572 1484.13 G A . 0/1 126 SYNONYMOUS_CODING LOW None 0.00040 0.19010 0.10826 None None None None None None PSG9|0.000866853|96.25%

LENG8
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs572364848
dbSNP Clinvar 		54972528 191.484 G A . 0/1 32 None None None 0.00040 0.00040 0.00 0.00 None None None None None None LENG8|0.0609729|59.6%

KIR2DL1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs147072532
dbSNP Clinvar 		55286796 84.213 G A . 1/1 15 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.29 0.01 None None None None None None KIR3DL1|0.000640018|97.61%,KIR2DL4|0.000718329|97.16%,KIR2DL3|0.000872917|96.18%,KIR2DL1|0.000975472|95.6%
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs8101262
dbSNP Clinvar 		55148390 1484.13 C A . 0/1 75 None None None 0.00040 0.10600 None None None None None None LILRB1|0.00078612|96.76%

CNOT3
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs36665
dbSNP Clinvar 		54649671 1484.13 T C . 1/1 49 SYNONYMOUS_CODING LOW None 0.00040 0.00040 0.00023 None None None None None None CNOT3|0.107195119|49.76%

TMEM145
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs377216123
dbSNP Clinvar 		42824571 1484.13 C T,A,G . 0/1 140 STOP_GAINED HIGH None 0.00040 0.00040 0.00015 None None None None None None TMEM145|0.261404784|30.64%
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs149463067
dbSNP Clinvar 		36279350 20.1194 C T . 0/1 35 None None None 0.00040 0.00040 None None None None None None ARHGAP33|0.074124913|56.5%
View grc14378018_exome 19 rs7250297
dbSNP Clinvar 		23922756 1484.13 T C . 1/1 48 None None None 0.00040 0.97680 None None None None None None ZNF681|0.000792742|96.69%

UNC13A
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs9305092
dbSNP Clinvar 		17777508 1484.13 C G . 1/1 134 SYNONYMOUS_CODING LOW None 0.00040 0.75200 0.13443 None None None None None None UNC13A|0.069265201|57.67%

PRAM1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs4239541
dbSNP Clinvar 		8564474 1484.13 G T . 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 1.00 0.00 None None None None None None PRAM1|0.002623515|89.43%

CD37
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs354021
dbSNP Clinvar 		49839015 1484.13 T C . 1/1 127 SYNONYMOUS_CODING LOW None 0.00040 0.00040 0.18568 None None None None None None CD37|0.016678647|76.09%

ACP5
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs141651325
dbSNP Clinvar 		11687621 1484.13 C T . 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.00115 0.59 0.00 None None None None None None ZNF627|0.001347308|93.61%,ACP5|0.038435698|66.32%

TSHZ3
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs145440380
dbSNP Clinvar 		31767537 1484.13 G A,T . 0/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.00069 0.00 1.00 None None None None None None TSHZ3|0.18393578|38.51%
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs184578203
dbSNP Clinvar 		50031270 1484.13 G A . 0/1 98 None None None 0.00060 0.00060 None None None None None None RCN3|0.075790241|56.11%
View grc14378018_exome 19 rs563339934
dbSNP Clinvar 		18474714 1484.13 G A . 0/1 56 None None None 0.00060 0.00060 None None None None None None PGPEP1|0.050980489|62.37%
View grc14378018_exome 19 rs61606737
dbSNP Clinvar 		4472322 25.6171 C T . 0/1 13 START_GAINED LOW None 0.00060 0.00060 0.27867 None None None None None None None

MEGF8
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs140035679
dbSNP Clinvar 		42853806 1484.14 C T . 0/1 64 SYNONYMOUS_CODING LOW None 0.00060 0.00060 0.00092 None None None None None None MEGF8|0.093938097|52.38%
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs2074591
dbSNP Clinvar 		43349294 1484.13 A G . 1/1 141 None None None 0.00060 0.42270 None None None None None None PSG8|0.000687941|97.34%

PSG11
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs2471952
dbSNP Clinvar 		43529026 1484.13 C T . 0/1 143 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.00080 0.49985 0.16 0.04 None None None None None None PSG11|0.000807625|96.61%

LILRA2
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs141416279
dbSNP Clinvar 		55098750 1484.13 C T . 0/1 113 SYNONYMOUS_CODING LOW None 0.00080 0.00080 0.00085 None None None None None None LILRA2|0.001345167|93.63%,LILRB1|0.00078612|96.76%
Omim - GeneCards - NCBI
Options Individual Chr
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 . 55247707 558.729 C A . 1/1 23 None None None 0.00080 None None None None None None KIR3DL1|0.000640018|97.61%,KIR3DL3|0.000528519|98.28%,KIR2DL4|0.000718329|97.16%

KIR2DL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs666590
dbSNP Clinvar 		55286854 14.7298 A G . 1/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.00080 1.00 0.00 None None None None None None KIR3DL1|0.000640018|97.61%,KIR2DL4|0.000718329|97.16%,KIR2DL3|0.000872917|96.18%,KIR2DL1|0.000975472|95.6%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs571040770
dbSNP Clinvar 		54947712 1484.13 C T . 0/1 53 None None None 0.00080 0.00080 None None None None None None TTYH1|0.026959404|70.91%

FBXL12
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs140944467
dbSNP Clinvar 		9921880 1484.13 G A . 0/1 106 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.00080 0.00162 0.13 0.09 None None None None None None FBXL12|0.018311956|75.08%

MUC16
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs78327556
dbSNP Clinvar 		9002504 62.5733 T C . 0/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.00080 0.97 None None None None None None MUC16|0.001379523|93.47%
View grc14378018_exome 19 rs548751371
dbSNP Clinvar 		8999514 1484.13 C T . 0/1 195 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.00080 0.82 None None None None None None MUC16|0.001379523|93.47%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs192596618
dbSNP Clinvar 		49185291 193.36 T C . 0/1 24 None None None 0.00080 0.00080 None None None None None None None
View grc14378018_exome 19 rs530302208
dbSNP Clinvar 		47504627 1484.13 C T . 0/1 101 None None None 0.00080 0.00080 None None None None None None ARHGAP35|0.387087068|21.6%

TRAPPC6A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs374984117
dbSNP Clinvar 		45667239 1484.13 C T,A . 0/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.00100 0.00100 0.00031 0.00 0.01 None None None None None None MARK4|0.139462613|44.48%,TRAPPC6A|0.030805691|69.04%

PSG4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs11883277
dbSNP Clinvar 		43709654 560.219 C A . 1/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.00100 0.91390 0.68 0.01 None None None None None None PSG4|0.000588489|97.99%

WDR83
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs34373915
dbSNP Clinvar 		12786370 1484.13 G A . 0/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.00100 0.00100 0.00146 0.76 0.00 None None None None None None WDR83|0.098839976|51.39%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs570351439
dbSNP Clinvar 		51670848 1484.13 G A . 0/1 60 None None None 0.00100 0.00100 None None None None None None None

PLIN4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs10422078
dbSNP Clinvar 		4511278 1484.13 C T . 0/1 171 SYNONYMOUS_CODING LOW None 0.00120 0.00120 None None None None None None PLIN4|0.000829699|96.5%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs145713850
dbSNP Clinvar 		46893816 1484.13 A T . 0/1 143 None None None 0.00120 0.00120 None None None None None None PPP5C|0.201407447|36.6%
View grc14378018_exome 19 rs11673150
dbSNP Clinvar 		15726589 1484.13 C A . 0/1 63 None None None 0.00120 0.07568 0.11398 None None None None None None None

WDR62
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs2301734
dbSNP Clinvar 		36575645 1484.13 G A . 0/1 102 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00120 0.12500 0.15355 None None None None None None WDR62|0.100440318|51.08%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs181424293
dbSNP Clinvar 		15533764 1484.13 G A . 0/1 87 MOTIF[MA0139.1:CTCF] MODIFIER None 0.00140 0.00140 None None None None None None WIZ|0.125492698|46.57%

FCGBP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs139526126
dbSNP Clinvar 		40424269 1484.13 C T . 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.00140 0.00140 0.00300 0.35 None None None None None None FCGBP|0.004084506|86.87%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs71266894
dbSNP Clinvar 		54726870 1484.13 C G . 0/1 213 None None None 0.00140 0.00140 None None None None None None RPS9|0.191676848|37.63%,LILRB3|0.000716345|97.17%,LILRA6|0.000800257|96.65%

SHANK1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs184259943
dbSNP Clinvar 		51169797 1484.13 G A . 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.00140 0.00140 0.00 None None None None None None SYT3|0.059759796|59.94%,SHANK1|0.016662992|76.11%

MUC16
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs75219945
dbSNP Clinvar 		9021107 1484.13 C G . 0/1 118 NON_SYNONYMOUS_CODING MODERATE None 0.00160 0.00160 0.06 None None None None None None MUC16|0.001379523|93.47%

PLIN4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs80238130
dbSNP Clinvar 		4511283 1484.13 C T,G . 0/1 174 NON_SYNONYMOUS_CODING MODERATE None 0.00160 0.00160 1.00 0.00 4.21 0.09 0.7565 D None None None None PLIN4|0.000829699|96.5%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs148691019
dbSNP Clinvar 		55044001 1484.13 A G . 0/1 75 None None None 0.00160 0.00160 0.00156 None None None None None None KIR3DX1|0.000180892|99.81%

MRPL54
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs148456964
dbSNP Clinvar 		3762705 1484.13 A G,C . 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.00160 0.00160 0.00346 1.00 0.00 None None None None None None MRPL54|0.003070751|88.55%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs188784582
dbSNP Clinvar 		3180114 1484.13 G A . 0/1 122 None None None 0.00160 0.00160 None None None None None None S1PR4|0.026768628|71.01%

VAV1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs117819421
dbSNP Clinvar 		6826630 1484.13 G A . 0/1 117 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00180 0.00180 0.00568 1.00 0.00 None None None None None None VAV1|0.486374216|16.49%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs557147469
dbSNP Clinvar 		18794460 37.6866 G C . 0/1 21 None None None 0.00180 0.00180 None None None None None None None
View grc14378018_exome 19 rs181058112
dbSNP Clinvar 		18476439 18.3963 C T . 0/1 11 None None None 0.00180 0.00180 None None None None None None PGPEP1|0.050980489|62.37%
View grc14378018_exome 19 rs201731003
dbSNP Clinvar 		41601860 1484.13 T C,G . 0/1 140 None None None 0.00180 0.00180 None None None None None None CYP2A13|0.03541962|67.35%

EMR3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs149010185
dbSNP Clinvar 		14752395 565.415 C T . 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.00200 0.00200 0.00246 0.18 0.47 None None None None None None ADGRE3|0.00236842|89.99%

CHST8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs62103464
dbSNP Clinvar 		34180194 1484.13 G A . 0/1 122 SYNONYMOUS_CODING LOW None 0.00200 0.00200 0.00577 None None None None None None CHST8|0.085779137|53.98%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs11669356
dbSNP Clinvar 		22605120 1051.09 G T . 0/1 45 None None None 0.00200 0.00200 None None None None None None ZNF98|0.001061767|95.1%

NLRP5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs34175666
dbSNP Clinvar 		56539284 1484.13 G A . 0/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.00220 0.00220 0.00616 0.02 0.54 None None None None None None NLRP5|0.000370578|99.14%

CYP2A6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs56314118
dbSNP Clinvar 		41350630 33.4281 A G . 0/1 30 SYNONYMOUS_CODING LOW None 0.00220 0.00220 0.00484 None None None None None None CYP2A6|0.439107836|18.72%

EPN1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs200478642
dbSNP Clinvar 		56200667 1484.13 C T . 0/1 137 None None None 0.00240 0.00240 0.18 0.73 None None None None None None EPN1|0.02008089|74.15%

KIR2DL3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs595008
dbSNP Clinvar 		55255490 1484.13 A C . 0/1 55 SYNONYMOUS_CODING LOW None 0.00260 0.00260 None None None None None None KIR3DL1|0.000640018|97.61%,KIR2DL4|0.000718329|97.16%,KIR2DL3|0.000872917|96.18%

PLEKHG2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs31729
dbSNP Clinvar 		39915904 1484.13 G A . 0/1 90 SYNONYMOUS_CODING LOW None 0.00260 0.00260 0.00197 None None None None None None PLEKHG2|0.013133635|78.43%

SHKBP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs36076841
dbSNP Clinvar 		41094600 1484.13 C T . 0/1 187 SYNONYMOUS_CODING LOW None 0.00280 0.00280 0.00315 None None None None None None SHKBP1|0.048353066|63.18%

ZNF772
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs2074059
dbSNP Clinvar 		57985460 318.37 T A . 1/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.00280 0.67650 0.37160 0.81 0.00 None None None None None None ZNF772|0.002951942|88.73%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs190191374
dbSNP Clinvar 		53086946 1484.13 G T . 0/1 57 None None None 0.00300 0.00300 None None None None None None ZNF701|0.000557604|98.13%

ZNF836
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs61744685
dbSNP Clinvar 		52658231 1484.13 C T . 0/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.00300 0.00300 0.01014 0.55 0.16 None None None None None None ZNF836|0.001167182|94.61%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs73007508
dbSNP Clinvar 		10802726 1484.13 C G,T,A . 0/1 212 None None None 0.00300 0.00300 None None None None None None ILF3|0.393061423|21.21%
View grc14378018_exome 19 rs6509523
dbSNP Clinvar 		51767205 1484.13 C T . 0/1 100 None None None 0.00319 0.00320 None None None None None None SIGLECL1|0.002234917|90.32%

MARK4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs76754579
dbSNP Clinvar 		45801437 1484.13 C T . 0/1 149 None None None 0.00319 0.00320 None None None None None None MARK4|0.139462613|44.48%

PSG8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs200711372
dbSNP Clinvar 		43359720 1484.13 C G . 0/1 73 None None None 0.00319 0.00320 1.00 0.00 None None None None None None PSG8|0.000687941|97.34%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs184774147
dbSNP Clinvar 		43258389 1484.13 G A . 0/1 46 None None None 0.00319 0.00320 None None None None None None PSG8|0.000687941|97.34%

ZNF260
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs147985036
dbSNP Clinvar 		37005808 1484.13 A G . 0/1 164 SYNONYMOUS_CODING LOW None 0.00339 0.00340 0.00738 None None None None None None ZNF260|0.030696963|69.1%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs146924131
dbSNP Clinvar 		38177416 1484.13 AAC A . 0/1 87 None None None 0.00339 0.00340 None None None None None None ZFP30|0.030255234|69.3%,ZNF781|0.001256952|94.12%

MAN2B1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs1054487
dbSNP Clinvar 		12772165 20.9269 G A . 0/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.00339 0.32790 0.45356 1.00 0.02 None None None None None None MAN2B1|0.016002669|76.46%

MUC16
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs149857609
dbSNP Clinvar 		9020052 1484.13 G A . 0/1 68 SYNONYMOUS_CODING LOW None 0.00359 0.00359 0.00352 None None None None None None MUC16|0.001379523|93.47%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs183741190
dbSNP Clinvar 		51872094 1484.13 C G,A . 0/1 125 None None None 0.00359 0.00359 None None None None None None CLDND2|0.007549091|83.01%

FOXA3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs144459600
dbSNP Clinvar 		46375608 551.678 C T,G . 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.00359 0.00359 0.00707 0.00 0.34 None None None None None None FOXA3|0.118418545|47.67%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs150837991
dbSNP Clinvar 		15662473 1484.13 G T . 0/1 95 None None None 0.00379 0.00379 None None None None None None CYP4F22|0.026818585|70.99%
View grc14378018_exome 19 rs113478859,rs61117695
dbSNP Clinvar 		41931454 23.9085 A AG... . 1/1 29 None None None 0.00379 0.61040 None None None None None None B3GNT8|0.010708534|80.36%
View grc14378018_exome 19 rs75749721
dbSNP Clinvar 		52826693 14.7075 A C . 1/1 3 None None None 0.00379 0.00379 None None None None None None ZNF480|0.000598976|97.95%

RAVER1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs281425
dbSNP Clinvar 		10431799 46.1528 G T . 0/1 42 SYNONYMOUS_CODING LOW None 0.00419 0.00419 0.18226 None None None None None None RAVER1|0.039670497|65.86%

TRMT1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs150832090
dbSNP Clinvar 		13216115 1484.13 C T . 0/1 153 NON_SYNONYMOUS_CODING MODERATE None 0.00419 0.00419 0.00392 0.26 0.00 None None None None None None TRMT1|0.046642796|63.69%

CD209
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs78866372
dbSNP Clinvar 		7809013 1484.13 G A . 0/1 110 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00439 0.00439 0.00707 None None None None None None CD209|0.001091025|94.97%

VRK3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378018_exome 19 rs56089748
dbSNP Clinvar 		50496183 1484.13 C T . 0/1 130 SYNONYMOUS_CODING LOW None 0.00459 0.00459 0.00377 None None None None None None VRK3|0.012816596|78.63%