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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
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 rs138275722,rs766693099
dbSNP Clinvar 		5206245 1484.13 TTTTG T . 0/1 71 None None None 0.64936 0.64940 None None None None None None PTPRS|0.038665727|66.22%
View grc14378018_exome 19 rs151208523
dbSNP Clinvar 		58338243 20.0724 TT... T,... . 1/1 16 None None None 0.15795 0.15790 None None None None None None ZNF587B|0.000550298|98.19%
View grc14378018_exome 19 rs140333674,rs58694079
dbSNP Clinvar 		54677529 1484.13 TTTGA T . 0/1 45 None None None 0.17851 0.17850 None None None None None None MBOAT7|0.064107276|58.86%
View grc14378018_exome 19 rs143370381,rs367622249
dbSNP Clinvar 		20725774 46.931 TT... T . 0/1 18 None None None 0.02536 0.02536 None None None None None None ZNF737|0.001725803|91.77%
View grc14378018_exome 19 rs544745397,rs749815217,rs58832898
dbSNP Clinvar 		57733872 54.9405 TTC T . 0/1 56 None None None 0.17572 0.17570 None None None None None None None
View grc14378018_exome 19 . 9297604 17.9707 TTC T . 1/1 2 None None None None None None None None None OR7D2|0.001605409|92.32%
View grc14378018_exome 19 rs35802891,rs74192363
dbSNP Clinvar 		21133283 1484.13 TTAAA T . 0/1 98 None None None 0.11661 0.11660 None None None None None None ZNF85|0.001076203|95.02%
View grc14378018_exome 19 rs200059426
dbSNP Clinvar 		47333840 27.4001 TTA T . 0/1 27 None None None None None None None None None None
View grc14378018_exome 19 rs397844005
dbSNP Clinvar 		11244187 1484.13 TTA T . 1/1 41 None None None 0.87360 0.87360 None None None None None None LDLR|0.466211221|17.35%,SPC24|0.019919442|74.22%

KCNA7
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 rs10535426,rs375428032
dbSNP Clinvar 		49573362 1484.13 TGGA T . 0/1 135 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.14477 0.14480 0.14909 None None None None None None KCNA7|0.090421752|53.13%
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 . 5559105 223.224 TG... T . 0/1 30 None None None None None None None None None None

ZNF99
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 rs767477052
dbSNP Clinvar 		22939026 319.328 TG T . 0/1 33 FRAME_SHIFT HIGH None 0.00573 None None None None None None ZNF99|0.000673392|97.41%
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 rs78448164,rs398079917,rs60926613
dbSNP Clinvar 		47932940 166.066 TG T . 1/1 18 None None None 0.94309 0.94310 None None None None None None SLC8A2|0.066798353|58.19%
View grc14378018_exome 19 rs10556752,rs398033691
dbSNP Clinvar 		1853983 288.943 TG T . 1/1 17 None None None 0.70867 0.70870 None None None None None None KLF16|0.006637304|83.91%
View grc14378018_exome 19 rs10564276,rs771289834,rs397743582
dbSNP Clinvar 		37309181 44.9186 TCTG T . 1/1 8 None None None None None None None None None ZNF790|0.002053494|90.84%

REXO1
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 rs149465929
dbSNP Clinvar 		1825927 1484.13 TCTC T . 1/1 150 CODON_DELETION MODERATE None 0.30012 0.30010 0.24181 None None None None None None REXO1|0.008678523|81.96%
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 rs144356088
dbSNP Clinvar 		811930 1484.13 TCTC T,... . 0/1 68 None None None 0.40156 0.40160 None None None None None None PTBP1|0.255046011|31.13%

ZNF284
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 rs139900131,rs369411341
dbSNP Clinvar 		44589999 1484.13 TCTC T . 1/1 48 CODON_DELETION MODERATE None 0.45088 0.45090 0.44731 None None None None None None ZNF284|0.000961429|95.72%
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 rs76524493,rs376600197
dbSNP Clinvar 		40736996 1484.13 TCTA T . 0/1 74 None None None 0.11821 0.11820 None None None None None None AKT2|0.840114431|4.88%
View grc14378018_exome 19 rs142958187,rs368900670
dbSNP Clinvar 		11275386 19.0672 TC... T,... . 1/1 60 None None None None None None None None None KANK2|0.015051347|77.09%
View grc14378018_exome 19 rs147477468,rs368198696
dbSNP Clinvar 		6752442 1484.13 TCAC T . 0/1 58 None None None None None None None None None SH2D3A|0.008626744|82%
View grc14378018_exome 19 rs77913400
dbSNP Clinvar 		52518426 1484.13 TCAC T . 0/1 113 None None None 0.25599 0.25600 None None None None None None ZNF614|0.003283614|88.11%
View grc14378018_exome 19 rs148841202
dbSNP Clinvar 		17716223 76.2113 TC T . 0/1 24 None None None 0.01178 0.01178 None None None None None None UNC13A|0.069265201|57.67%
View grc14378018_exome 19 rs3833287,rs397705247
dbSNP Clinvar 		17923554 1484.13 TC T . 0/1 85 None None None 0.60543 0.60540 None None None None None None B3GNT3|0.00215134|90.58%
View grc14378018_exome 19 rs59092521,rs796161369
dbSNP Clinvar 		53952885 285.376 TC T . 1/1 18 None None None 1.00000 1.00000 0.00701 None None None None None None None
View grc14378018_exome 19 rs16427,rs377341187
dbSNP Clinvar 		34719473 1484.13 TATG T . 0/1 86 None None None 0.25739 0.25740 None None None None None None LSM14A|0.922946433|2.91%
View grc14378018_exome 19 rs35296355,rs771756693,rs147172567,rs398034727
dbSNP Clinvar 		44111568 29.1767 TAC T . 1/1 32 None None None None None None None None None SRRM5|0.000741278|97.07%,ZNF428|0.0469829|63.6%
View grc14378018_exome 19 rs67390379,rs764644807
dbSNP Clinvar 		36937029 29.8635 TA... T . 0/1 35 None None None 0.21046 0.21050 None None None None None None ZNF566|0.048405497|63.16%
View grc14378018_exome 19 rs146276582
dbSNP Clinvar 		53087132 1484.13 TAATA T . 0/1 74 None None None 0.05831 0.05831 None None None None None None ZNF701|0.000557604|98.13%
View grc14378018_exome 19 rs149394410,rs553412330
dbSNP Clinvar 		54103388 66.123 TA... T . 0/1 32 None None None None None None None None None None
View grc14378018_exome 19 rs59609355,rs532055828,rs796483361
dbSNP Clinvar 		41247346 68.0387 TAA T,... . 0/1 37 None None None 0.58926 0.58930 None None None None None None C19orf54|0.037514553|66.62%
View grc14378018_exome 19 . 49844037 40.1933 TA T,TAA . 0/1 57 None None None None None None None None None CD37|0.016678647|76.09%,TEAD2|0.127947305|46.2%
View grc14378018_exome 19 rs58259984
dbSNP Clinvar 		36827701 14.9593 TA T . 0/1 12 None None None 0.17851 0.17850 None None None None None None ZFP14|0.042136678|65.05%

ZNF880
Omim - GeneCards - NCBI
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View grc14378018_exome 19 rs34470614,rs398101268
dbSNP Clinvar 		52887145 1484.13 TA T,TT . 0/1 48 FRAME_SHIFT HIGH None 0.35779 None None None None None None ZNF880|0.002180877|90.48%

HSH2D
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 rs5827321,rs398079755,rs398034064
dbSNP Clinvar 		16268207 905.011 TA T . 1/1 23 FRAME_SHIFT HIGH None 1.00000 1.00000 None None None None None None HSH2D|0.00157436|92.44%
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 rs11353049,rs374556543
dbSNP Clinvar 		51954582 18.2745 TA T,TAA . 1/1 29 None None None None None None None None None SIGLEC8|0.000379847|99.08%
View grc14378018_exome 19 rs3214618
dbSNP Clinvar 		42882829 1484.13 TA T . 0/1 77 None None None 0.31949 0.31950 0.28882 None None None None None None MEGF8|0.093938097|52.38%
View grc14378018_exome 19 rs5828685
dbSNP Clinvar 		57039790 25.9778 TA T . 1/1 4 None None None 0.38498 0.38500 None None None None None None ZNF471|0.008898979|81.75%
View grc14378018_exome 19 rs34285755,rs397897664
dbSNP Clinvar 		47824451 1484.13 TA T . 1/1 95 None None None 0.98802 0.98800 None None None None None None C5AR1|0.017691217|75.49%
View grc14378018_exome 19 rs34307142
dbSNP Clinvar 		58267431 44.9161 TA T . 1/1 7 None None None 0.17412 0.48320 None None None None None None ZNF776|0.002793847|89.06%
View grc14378018_exome 19 . 20722094 1484.13 TA T,... . 0/1 51 None None None None None None None None None ZNF737|0.001725803|91.77%
View grc14378018_exome 19 rs528686979
dbSNP Clinvar 		54948052 36.5726 TA T,AA . 0/1 18 None None None 0.11342 0.11340 None None None None None None TTYH1|0.026959404|70.91%
View grc14378018_exome 19 rs71165889
dbSNP Clinvar 		23925544 1484.13 TA T . 1/1 109 None None None 0.97724 0.97720 None None None None None None ZNF681|0.000792742|96.69%

PTPRH
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 rs890870
dbSNP Clinvar 		55699454 1484.13 T C . 1/1 75 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None PTPRH|0.001001705|95.42%

ZNF98
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 rs4100185
dbSNP Clinvar 		22574699 1484.13 T C . 0/1 140 SYNONYMOUS_CODING LOW None 0.06510 0.06510 None None None None None None ZNF98|0.001061767|95.1%

KIR3DL2
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 rs58413124
dbSNP Clinvar 		55378083 792.376 T C . 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.05132 0.05132 0.04167 0.96 0.00 None None None None None None KIR3DL1|0.000640018|97.61%,KIR3DL2|0.000627152|97.71%
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 rs8109960
dbSNP Clinvar 		3535582 1484.13 T C . 0/1 89 None None None 0.36522 0.36520 None None None None None None FZR1|0.152955015|42.53%

ZNF98
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 rs201005223
dbSNP Clinvar 		22574818 1484.13 T C,A . 0/1 226 STOP_GAINED HIGH None 0.34086 0.34090 None None None None None None ZNF98|0.001061767|95.1%

FFAR3
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 rs142125121
dbSNP Clinvar 		35850672 1484.13 T C,A . 0/1 231 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.28 None None None None None None FFAR3|0.007391338|83.15%

RHPN2
Omim - GeneCards - NCBI
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View grc14378018_exome 19 rs74582927
dbSNP Clinvar 		33490566 1484.13 T C . 0/1 517 NON_SYNONYMOUS_CODING MODERATE None 0.27816 0.27820 0.03 0.86 None None None None None None RHPN2|0.04493503|64.24%

PLIN4
Omim - GeneCards - NCBI
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View grc14378018_exome 19 rs7259721
dbSNP Clinvar 		4511350 1484.13 T A . 0/1 176 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None PLIN4|0.000829699|96.5%

DMKN
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 rs909072
dbSNP Clinvar 		35991442 1484.13 T G . 1/1 137 NON_SYNONYMOUS_CODING MODERATE None 0.99840 0.99840 0.00584 1.00 0.00 None None None None None None DMKN|0.003521347|87.74%
View grc14378018_exome 19 rs4254439
dbSNP Clinvar 		35998362 1484.13 T G . 0/1 42 None None None 0.38478 0.38480 None None None None None None DMKN|0.003521347|87.74%

PLIN4
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 rs74202324
dbSNP Clinvar 		4511341 1484.13 T C . 0/1 184 SYNONYMOUS_CODING LOW None None None None None None None PLIN4|0.000829699|96.5%
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 rs2108389
dbSNP Clinvar 		3591590 1484.13 T C,A . 1/1 115 None None None 0.51757 0.51760 None None None None None None GIPC3|0.047502815|63.46%
View grc14378018_exome 19 rs8105780
dbSNP Clinvar 		3592171 1484.13 T C . 1/1 141 None None None 0.55970 0.55970 None None None None None None GIPC3|0.047502815|63.46%
View grc14378018_exome 19 rs3746200
dbSNP Clinvar 		17712374 1484.13 T C . 0/1 75 None None None 0.09125 0.09125 None None None None None None UNC13A|0.069265201|57.67%

ZNRF4
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 rs8111108
dbSNP Clinvar 		5456450 1484.13 T C . 0/1 44 SYNONYMOUS_CODING LOW None 0.70467 0.70470 0.38217 None None None None None None ZNRF4|0.001659302|92.06%
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 rs10402189
dbSNP Clinvar 		17692652 1484.13 T G . 0/1 77 None None None 0.05052 0.05052 None None None None None None COLGALT1|0.065422939|58.5%
View grc14378018_exome 19 rs58470815
dbSNP Clinvar 		36132922 1484.13 T C . 0/1 76 None None None 0.29852 0.29850 None None None None None None ETV2|0.007601079|82.96%

ZNF98
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 rs200887709
dbSNP Clinvar 		22574988 65.4479 T C,G . 0/1 402 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.01 None None None None None None ZNF98|0.001061767|95.1%
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 rs8100092
dbSNP Clinvar 		17692324 1484.13 T G . 1/1 109 None None None 0.82488 0.82490 None None None None None None COLGALT1|0.065422939|58.5%
View grc14378018_exome 19 rs12459634
dbSNP Clinvar 		36230174 22.1291 T C . 0/1 38 None None None 0.07867 0.07867 0.10545 None None None None None None IGFLR1|0.002097034|90.74%

LIN37
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 rs170758
dbSNP Clinvar 		36243089 1484.13 T C,A . 1/1 97 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None LIN37|0.141937592|44.15%
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 rs35973823
dbSNP Clinvar 		55295426 1484.13 T A . 1/1 65 None None None 0.63199 0.63200 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%
View grc14378018_exome 19 rs3816051
dbSNP Clinvar 		55385604 1484.13 T C . 0/1 85 None None None 0.42672 0.42670 None None None None None None None

GPATCH1
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 rs7259333
dbSNP Clinvar 		33579128 1484.13 T C . 0/1 41 SYNONYMOUS_CODING LOW None 0.53395 0.53390 0.42419 None None None None None None GPATCH1|0.063745069|58.94%
View grc14378018_exome 19 rs2287679
dbSNP Clinvar 		33600764 1484.13 T C . 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.53355 0.53350 0.42288 0.40 0.00 None None None None None None GPATCH1|0.063745069|58.94%
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 rs8105629
dbSNP Clinvar 		21609556 1484.13 T A . 1/1 119 None None None 0.17432 0.17430 None None None None None None ZNF493|0.000957032|95.74%

ZNRF4
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 rs8107825
dbSNP Clinvar 		5455978 1484.13 T C . 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.54433 0.54430 0.44654 0.46 0.01 None None None None None None ZNRF4|0.001659302|92.06%
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 rs60304316
dbSNP Clinvar 		55401474 16.4202 T C . 1/1 5 None None None 0.08526 0.08526 2.82 0.12 0.80418 D None None None None FCAR|0.000479395|98.55%

ANKRD27
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 rs6510271
dbSNP Clinvar 		33117666 1484.13 T C . 1/1 171 SYNONYMOUS_CODING LOW None 0.65196 0.65200 0.34084 None None None None None None ANKRD27|0.115031878|48.32%

CACTIN
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 rs7255692
dbSNP Clinvar 		3614403 1484.13 T C,A . 1/1 66 SYNONYMOUS_CODING LOW None 0.98582 0.98580 0.03190 None None None None None None CACTIN|0.050675248|62.45%

GPATCH1
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 rs10421769
dbSNP Clinvar 		33605312 673.711 T C . 1/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.77017 0.77020 0.46394 1.00 0.00 None None None None None None GPATCH1|0.063745069|58.94%
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 rs2992
dbSNP Clinvar 		4443046 87.3363 T C . 0/1 22 None None None 0.40575 0.40580 0.30148 None None None None None None CHAF1A|0.043730551|64.6%
View grc14378018_exome 19 rs2250978
dbSNP Clinvar 		4945974 1484.13 T C . 1/1 30 None None None 0.95667 0.95670 0.05174 None None None None None None None
View grc14378018_exome 19 rs2285627
dbSNP Clinvar 		19467937 1484.13 T C . 1/1 52 None None None 0.56709 0.56710 None None None None None None MAU2|0.230960956|33.29%

ZNF492
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 rs62118831
dbSNP Clinvar 		22846697 39.8912 T C . 0/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.00 None None None None None None ZNF492|0.000871409|96.21%
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 rs743578
dbSNP Clinvar 		2430232 1484.13 T C . 0/1 83 None None None 0.38778 0.38780 None None None None None None LMNB2|0.091068827|53.02%

KIR2DS4
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 rs1130476
dbSNP Clinvar 		55344239 1484.13 T G,C . 0/1 192 NON_SYNONYMOUS_CODING MODERATE None 0.51 0.00 None None None None None None KIR3DL1|0.000640018|97.61%
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 rs1051690
dbSNP Clinvar 		7116963 1484.13 T C . 1/1 70 None None None 0.87740 0.87740 None None None None None None INSR|0.981323022|1.43%

HCST
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 rs33964243
dbSNP Clinvar 		36394272 1484.13 T C . 0/1 143 SYNONYMOUS_CODING LOW None 0.15156 0.15160 0.13555 None None None None None None HCST|0.008228607|82.43%
View grc14378018_exome 19 rs8106495
dbSNP Clinvar 		36394678 1484.13 T C . 0/1 68 SYNONYMOUS_CODING LOW None 0.09345 0.09345 0.07681 None None None None None None HCST|0.008228607|82.43%

GP6
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 rs1654425
dbSNP Clinvar 		55538980 17.9224 T C . 0/1 10 SYNONYMOUS_CODING LOW None 0.90715 0.90710 0.11990 None None None None None None GP6|0.001463632|92.98%
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 rs1802029
dbSNP Clinvar 		36395446 1484.13 T G . 0/1 77 None None None 0.09345 0.09345 0.07727 None None None None None None TYROBP|0.060968162|59.61%
View grc14378018_exome 19 rs2251520
dbSNP Clinvar 		4929413 1484.13 T C . 1/1 83 None None None 0.32029 0.32030 0.31390 None None None None None None None

WDR88
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 rs11881580
dbSNP Clinvar 		33647379 1484.13 T C . 0/1 129 NON_SYNONYMOUS_CODING MODERATE None 0.25539 0.25540 0.20806 0.53 0.00 None None None None None None WDR88|0.00682639|83.65%

CHAF1A
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 rs243383
dbSNP Clinvar 		4442999 180.92 T G . 1/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.96985 0.96980 0.01709 1.00 0.01 None None None None None None CHAF1A|0.043730551|64.6%
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 rs17832852
dbSNP Clinvar 		32973355 1484.13 T G . 1/1 126 None None None 0.28634 0.28630 None None None None None None DPY19L3|0.24892303|31.62%

TJP3
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 rs10416362
dbSNP Clinvar 		3740658 1484.13 T G . 0/1 120 SYNONYMOUS_CODING LOW None 0.55132 0.55130 0.47730 None None None None None None TJP3|0.010585392|80.45%
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 rs7497
dbSNP Clinvar 		19039298 1484.13 T C . 0/1 50 None None None 0.42472 0.42470 None None None None None None DDX49|0.074684443|56.37%

ZNF160
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 rs78382850
dbSNP Clinvar 		53572059 1484.13 T C . 0/1 96 SYNONYMOUS_CODING LOW None 0.03674 0.03674 0.05890 None None None None None None ZNF160|0.001542331|92.57%

TJP3
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 rs1046268
dbSNP Clinvar 		3750615 1484.13 T C . 0/1 126 NON_SYNONYMOUS_CODING MODERATE None 0.53335 0.53330 0.48646 1.00 0.00 None None None None None None TJP3|0.010585392|80.45%

ZNF160
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 rs61732582
dbSNP Clinvar 		53572887 1484.13 T C . 0/1 90 SYNONYMOUS_CODING LOW None 0.00699 0.00699 0.01630 None None None None None None ZNF160|0.001542331|92.57%

KIR2DL1
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 rs11673144
dbSNP Clinvar 		55286650 103.208 T C . 1/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.26617 0.26620 0.28548 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
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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 rs8102090
dbSNP Clinvar 		2512371 1484.13 T G . 0/1 47 None None None 0.13399 0.13400 None None None None None None GNG7|0.058755957|60.21%
View grc14378018_exome 19 rs3814
dbSNP Clinvar 		53611187 178.616 T C . 0/1 33 None None None 0.54333 0.54330 None None None None None None ZNF415|0.000738826|97.08%

CCDC94
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 rs1045750
dbSNP Clinvar 		4251069 1484.13 T C . 0/1 63 SYNONYMOUS_CODING LOW None 0.47624 0.47620 0.41473 None None None None None None CCDC94|0.061280766|59.51%

ZNF415
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 rs4803051
dbSNP Clinvar 		53612311 1484.13 T C . 0/1 72 SYNONYMOUS_CODING LOW None 0.47744 0.47740 0.41735 None None None None None None ZNF415|0.000738826|97.08%
View grc14378018_exome 19 rs1133327
dbSNP Clinvar 		53612745 1484.13 T C . 0/1 149 NON_SYNONYMOUS_CODING MODERATE None 0.54493 0.54490 0.49377 1.00 0.00 None None None None None None ZNF415|0.000738826|97.08%