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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 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

A1BG

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 rs893184
dbSNP Clinvar
58864479 1484.13 T C . 1/1 121 NON_SYNONYMOUS_CODING MODERATE None 0.84844 0.84840 0.10849 0.91 0.00 None None None None None None A1BG|0.00221541|90.38%

ABCA7

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 rs3752234
dbSNP Clinvar
1047002 28.5549 A G . 1/1 7 SYNONYMOUS_CODING LOW None 0.57887 0.57890 0.46635 None None None None None None ABCA7|0.007770288|82.8%
View grc14378018_exome 19 rs3752246
dbSNP Clinvar
1056492 975.443 G C . 1/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.82548 0.82550 0.12788 1.00 0.00 1.98 0.05 0.64766 D None None None None ABCA7|0.007770288|82.8%
View grc14378018_exome 19 . 1063859 1484.13 AT A . 0/1 95 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None ABCA7|0.007770288|82.8%
View grc14378018_exome 19 rs4147934
dbSNP Clinvar
1065018 102.76 G T . 1/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.60503 0.60500 0.25026 0.88 0.10 None None None None None None ABCA7|0.007770288|82.8%
View grc14378018_exome 19 rs4147930
dbSNP Clinvar
1064193 1484.13 G A . 1/1 117 SYNONYMOUS_CODING LOW None 0.60643 0.60640 0.29566 None None None None None None ABCA7|0.007770288|82.8%
View grc14378018_exome 19 rs881768
dbSNP Clinvar
1056065 202.69 A G,T . 1/1 24 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.44209 0.44210 0.45937 0.02 0.09 None None None None None None ABCA7|0.007770288|82.8%
View grc14378018_exome 19 rs3745842
dbSNP Clinvar
1055191 1484.13 G A . 1/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.39058 0.39060 0.40647 0.54 0.00 None None None None None None ABCA7|0.007770288|82.8%
View grc14378018_exome 19 rs3764645
dbSNP Clinvar
1042809 1484.13 A G . 1/1 130 NON_SYNONYMOUS_CODING MODERATE None 0.39956 0.39960 0.38867 0.48 0.00 None None None None None None ABCA7|0.007770288|82.8%
View grc14378018_exome 19 rs3752243
dbSNP Clinvar
1054060 1484.13 A G,T . 1/1 141 SYNONYMOUS_CODING LOW None 0.53614 0.53610 0.47355 None None None None None None ABCA7|0.007770288|82.8%
View grc14378018_exome 19 rs3764652
dbSNP Clinvar
1052005 1484.13 C T . 1/1 79 SYNONYMOUS_CODING LOW None 0.37939 0.37940 0.40154 3.32 0.15 0.82802 D None None None None ABCA7|0.007770288|82.8%
View grc14378018_exome 19 rs4147915
dbSNP Clinvar
1049305 1484.13 C A . 1/1 124 SYNONYMOUS_CODING LOW None 0.19988 0.19990 0.13185 None None None None None None ABCA7|0.007770288|82.8%
View grc14378018_exome 19 rs3752237
dbSNP Clinvar
1047161 1022.48 A G,C . 1/1 31 SYNONYMOUS_CODING LOW None 0.69529 0.69530 0.37591 None None None None None None ABCA7|0.007770288|82.8%

ABHD17A

Omim - GeneCards - NCBI
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View grc14378018_exome 19 rs4807160
dbSNP Clinvar
1880950 1484.13 T C . 1/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.63099 0.63100 0.36662 1.00 0.00 -1.80 0.00 0.10297 T None None None None ABHD17A|0.044405191|64.37%

ABHD8

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 rs11086067
dbSNP Clinvar
17412399 24.2572 G A . 0/1 13 SYNONYMOUS_CODING LOW None 0.23862 0.23860 0.24494 None None None None None None ABHD8|0.012085184|79.18%,MRPL34|0.007545903|83.01%
View grc14378018_exome 19 rs11086066
dbSNP Clinvar
17412366 193.428 G A . 0/1 24 SYNONYMOUS_CODING LOW None 0.23702 0.23700 0.24633 None None None None None None ABHD8|0.012085184|79.18%,MRPL34|0.007545903|83.01%

AC024592.12

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View grc14378018_exome 19 rs778971
dbSNP Clinvar
5867748 1484.13 G T . 0/1 112 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.63878 0.63880 0.46529 0.09 0.62 None None None None None None FUT5|0.001156471|94.68%

ACP5

Omim - GeneCards - NCBI
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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%
View grc14378018_exome 19 rs150582430
dbSNP Clinvar
11688001 1484.13 C T . 0/1 111 SYNONYMOUS_CODING LOW None 0.00015 None None None None None None ZNF627|0.001347308|93.61%,ACP5|0.038435698|66.32%

ACPT

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View grc14378018_exome 19 rs55716643
dbSNP Clinvar
51297825 1484.13 G A . 0/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.32987 0.32990 0.23512 0.53 0.00 None None None None None None ACPT|0.016239372|76.31%
View grc14378018_exome 19 rs55735528
dbSNP Clinvar
51297826 1484.13 C A . 0/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.32987 0.32990 0.23497 1.00 0.00 None None None None None None ACPT|0.016239372|76.31%

ACSBG2

Omim - GeneCards - NCBI
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View grc14378018_exome 19 rs4807840
dbSNP Clinvar
6156483 1484.13 T C . 0/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.71206 0.71210 0.29994 1.00 0.00 None None None None None None RFX2|0.09042428|53.13%,ACSBG2|0.002277408|90.23%

ACTL9

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 rs2340550
dbSNP Clinvar
8808942 1484.13 A G . 0/1 140 NON_SYNONYMOUS_CODING MODERATE None 0.79173 0.79170 0.28447 0.56 0.00 None None None None None None ACTL9|0.004666462|86.26%
View grc14378018_exome 19 rs10410943
dbSNP Clinvar
8808900 1484.13 A G . 0/1 141 NON_SYNONYMOUS_CODING MODERATE None 0.79173 0.79170 0.27926 1.00 0.00 None None None None None None ACTL9|0.004666462|86.26%

ACTN4

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 rs3745859
dbSNP Clinvar
39196745 675.249 C T . 1/1 24 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.33926 0.33930 0.39236 None None None None None None ACTN4|0.387377198|21.58%

ADAMTS10

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 rs4476282
dbSNP Clinvar
8651562 1484.13 A G,T . 0/1 91 SYNONYMOUS_CODING LOW None 0.18470 0.18470 0.21728 None None None None None None ADAMTS10|0.099701531|51.23%
View grc14378018_exome 19 rs7252299
dbSNP Clinvar
8645786 1484.13 A C . 1/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.99980 0.99980 0.00015 1.00 0.00 None None None None None None ADAMTS10|0.099701531|51.23%
View grc14378018_exome 19 rs7255721
dbSNP Clinvar
8669931 1484.13 G C . 1/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.89397 0.89400 0.21830 1.00 0.00 None None None None None None ADAMTS10|0.099701531|51.23%

ADAMTSL5

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 rs265291
dbSNP Clinvar
1510661 1484.13 A G . 0/1 46 SYNONYMOUS_CODING LOW None 0.93570 0.93570 0.06900 None None None None None None ADAMTSL5|0.011039552|80.05%

ADAT3

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 rs12984675
dbSNP Clinvar
1912934 218.904 T C . 1/1 18 SYNONYMOUS_CODING LOW None 0.36322 0.36320 0.24623 None None None None None None SCAMP4|0.018776981|74.82%,ADAT3|0.006291951|84.29%
View grc14378018_exome 19 rs76159002
dbSNP Clinvar
1912986 1484.13 C T . 1/1 37 SYNONYMOUS_CODING LOW None 0.23702 0.23700 0.17341 None None None None None None SCAMP4|0.018776981|74.82%,ADAT3|0.006291951|84.29%

ADCK4

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 rs3865452
dbSNP Clinvar
41211056 1484.13 T C . 0/1 145 NON_SYNONYMOUS_CODING MODERATE None 0.47744 0.47740 0.45248 0.53 0.00 None None None None None None ADCK4|0.043749388|64.59%
View grc14378018_exome 19 rs11538385
dbSNP Clinvar
41209477 1484.13 C T . 0/1 124 SYNONYMOUS_CODING LOW None 0.22943 0.22940 0.23197 None None None None None None ADCK4|0.043749388|64.59%

AKAP8L

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 rs2058322
dbSNP Clinvar
15508362 1484.13 G C . 1/1 69 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.71 0.00 None None None None None None AKAP8L|0.140468826|44.33%

ALDH16A1

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 rs10853810
dbSNP Clinvar
49969085 1484.13 C T . 0/1 182 SYNONYMOUS_CODING LOW None 0.20927 0.20930 0.33884 None None None None None None ALDH16A1|0.021103617|73.62%
View grc14378018_exome 19 rs1320303
dbSNP Clinvar
49964977 1484.13 C G,A . 0/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.51018 0.51020 0.34881 1.00 0.01 None None None None None None ALDH16A1|0.021103617|73.62%
View grc14378018_exome 19 rs11558188
dbSNP Clinvar
49967981 1484.13 T G . 0/1 216 SYNONYMOUS_CODING LOW None 0.20986 0.20990 0.33692 None None None None None None ALDH16A1|0.021103617|73.62%

AMH

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View grc14378018_exome 19 rs10407022
dbSNP Clinvar
2249477 1484.13 G T . 1/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.67592 0.67590 0.26055 0.00 0.07 None None None None None None AMH|0.062219269|59.26%
View grc14378018_exome 19 rs10417628
dbSNP Clinvar
2251817 1484.13 T C . 1/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.99002 0.99000 0.01798 0.77 0.00 None None None None None None AMH|0.062219269|59.26%

ANGPTL4

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 rs1044250
dbSNP Clinvar
8436164 1484.13 C T . 0/1 120 NON_SYNONYMOUS_CODING MODERATE None 0.23962 0.23960 0.29140 0.27 0.04 None None None None None None ANGPTL4|0.044628099|64.29%

ANKLE1

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 rs2363956
dbSNP Clinvar
17394124 1484.13 T G . 0/1 146 NON_SYNONYMOUS_CODING MODERATE None 0.46066 0.46070 0.48747 0.03 1.00 None None None None None None ANKLE1|0.002494569|89.7%
View grc14378018_exome 19 rs879033943
dbSNP Clinvar
17397501 18.2821 T TT... . 1/1 7 None None None None None None None None None ANKLE1|0.002494569|89.7%
View grc14378018_exome 19 rs751599
dbSNP Clinvar
17396549 1484.13 T C,G . 0/1 77 SYNONYMOUS_CODING LOW None 0.63538 0.63540 0.19937 None None None None None None ANKLE1|0.002494569|89.7%
View grc14378018_exome 19 rs8100241
dbSNP Clinvar
17392894 1484.13 G A . 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.42732 0.42730 0.43512 0.01 1.00 None None None None None None USHBP1|0.004297284|86.6%,ANKLE1|0.002494569|89.7%
View grc14378018_exome 19 rs11882562
dbSNP Clinvar
17395055 1484.13 C G . 0/1 92 SYNONYMOUS_CODING LOW None 0.63538 0.63540 0.19922 None None None None None None ANKLE1|0.002494569|89.7%
View grc14378018_exome 19 rs1864116
dbSNP Clinvar
17393015 435.261 C T . 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.63538 0.63540 0.13051 0.21 0.15 None None None None None None USHBP1|0.004297284|86.6%,ANKLE1|0.002494569|89.7%
View grc14378018_exome 19 rs1864113
dbSNP Clinvar
17393504 1484.13 G C . 0/1 68 SYNONYMOUS_CODING LOW None 0.63538 0.63540 0.16019 None None None None None None USHBP1|0.004297284|86.6%,ANKLE1|0.002494569|89.7%
View grc14378018_exome 19 rs891017
dbSNP Clinvar
17394504 1484.13 A C . 0/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.63538 0.63540 0.19952 0.48 0.00 None None None None None None ANKLE1|0.002494569|89.7%
View grc14378018_exome 19 rs11086065
dbSNP Clinvar
17395003 1484.13 A G . 0/1 130 NON_SYNONYMOUS_CODING MODERATE None 0.63518 0.63520 0.19914 1.00 0.00 None None None None None None ANKLE1|0.002494569|89.7%
View grc14378018_exome 19 rs8108174
dbSNP Clinvar
17393530 1484.13 T A . 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.46066 0.46070 0.43206 0.01 0.99 None None None None None None USHBP1|0.004297284|86.6%,ANKLE1|0.002494569|89.7%

ANKRD24

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 rs2052191
dbSNP Clinvar
4200156 1484.13 G A . 0/1 89 NON_SYNONYMOUS_CODING MODERATE None 0.40635 0.40630 0.45356 1.00 0.00 None None None None None None ANKRD24|0.006993334|83.48%
View grc14378018_exome 19 rs6510794
dbSNP Clinvar
4217956 14.5492 A G . 0/1 15 SYNONYMOUS_CODING LOW None 0.45048 0.45050 0.37911 None None None None None None ANKRD24|0.006993334|83.48%
View grc14378018_exome 19 rs58333777
dbSNP Clinvar
4217587 14.7062 G A . 1/1 3 SYNONYMOUS_CODING LOW None 0.33387 0.33390 None None None None None None ANKRD24|0.006993334|83.48%
View grc14378018_exome 19 rs353693
dbSNP Clinvar
4217207 1484.13 T G . 0/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.97504 0.97500 0.05681 1.00 0.00 None None None None None None ANKRD24|0.006993334|83.48%
View grc14378018_exome 19 rs10413818
dbSNP Clinvar
4216910 1484.13 G A . 0/1 229 NON_SYNONYMOUS_CODING MODERATE None 0.71166 0.71170 0.27616 0.11 0.00 -0.95 0.01 0.26745 T None None None None ANKRD24|0.006993334|83.48%
View grc14378018_exome 19 rs12978469
dbSNP Clinvar
4210356 1484.13 G A . 0/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.61282 0.61280 0.37995 0.11 0.60 None None None None None None ANKRD24|0.006993334|83.48%

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 rs405858
dbSNP Clinvar
33106621 1484.13 C T . 1/1 122 SYNONYMOUS_CODING LOW None 0.48083 0.48080 0.38974 None None None None None None ANKRD27|0.115031878|48.32%
View grc14378018_exome 19 rs2302970
dbSNP Clinvar
33098632 1484.13 G C . 1/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.26518 0.26520 0.41619 0.79 0.94 None None None None None None ANKRD27|0.115031878|48.32%
View grc14378018_exome 19 rs45538631
dbSNP Clinvar
33095313 1484.13 G A . 0/1 67 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00459 0.00459 0.00446 None None None None None None ANKRD27|0.115031878|48.32%
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%
View grc14378018_exome 19 rs2287669
dbSNP Clinvar
33110204 1484.13 T C,A . 1/1 114 NON_SYNONYMOUS_CODING MODERATE None 0.46026 0.46030 0.44710 0.22 0.00 None None None None None None ANKRD27|0.115031878|48.32%

ANO8

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 rs755123
dbSNP Clinvar
17435884 1484.13 T C,A . 0/1 101 SYNONYMOUS_CODING LOW None 0.61881 0.61880 0.24758 None None None None None None ANO8|0.037387399|66.65%
View grc14378018_exome 19 rs56286266
dbSNP Clinvar
17435887 1484.13 C T . 0/1 103 SYNONYMOUS_CODING LOW None 0.24621 0.24620 0.27157 None None None None None None ANO8|0.037387399|66.65%
View grc14378018_exome 19 rs8102944
dbSNP Clinvar
17438642 1484.13 A G . 0/1 143 SYNONYMOUS_CODING LOW None 0.62181 0.62180 0.24289 None None None None None None ANO8|0.037387399|66.65%

AP1M1

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 rs3752797
dbSNP Clinvar
16339715 1484.13 C T . 0/1 104 SYNONYMOUS_CODING LOW None 0.45208 0.45210 0.44187 None None None None None None AP1M1|0.058029862|60.39%

AP1M2

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 rs3217392
dbSNP Clinvar
10683550 47.4803 CAG C . 0/1 15 None None None 0.16993 0.16990 None None None None None None AP1M2|0.078128475|55.65%
View grc14378018_exome 19 rs1045361
dbSNP Clinvar
10692000 1484.13 T C . 0/1 105 SYNONYMOUS_CODING LOW None 0.37260 0.37260 0.20816 None None None None None None AP1M2|0.078128475|55.65%

AP3D1

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 rs34569645
dbSNP Clinvar
2118692 1484.13 C T . 0/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.07588 0.07588 0.13243 0.19 0.03 -1.05 0.01 0.19179 T None None None None AP3D1|0.055098943|61.17%
View grc14378018_exome 19 rs25672
dbSNP Clinvar
2138654 1484.13 T G . 0/1 81 SYNONYMOUS_CODING LOW None 0.23642 0.23640 0.33769 None None None None None None AP3D1|0.055098943|61.17%
View grc14378018_exome 19 rs2074960
dbSNP Clinvar
2116649 1484.13 A G,T . 0/1 98 SYNONYMOUS_CODING LOW None 0.16334 0.16330 0.17480 None None None None None None AP3D1|0.055098943|61.17%
View grc14378018_exome 19 rs20567
dbSNP Clinvar
2110746 1484.13 G A . 0/1 50 SYNONYMOUS_CODING LOW None 0.32508 0.32510 0.29864 None None None None None None AP3D1|0.055098943|61.17%
View grc14378018_exome 19 rs55698722
dbSNP Clinvar
2114175 1484.13 T C,G . 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.07748 0.07748 0.13196 0.11 0.12 None None None None None None AP3D1|0.055098943|61.17%
View grc14378018_exome 19 rs25673
dbSNP Clinvar
2109157 1484.13 T C . 0/1 136 NON_SYNONYMOUS_CODING MODERATE None 0.07788 0.07788 0.13613 0.90 0.00 None None None None None None AP3D1|0.055098943|61.17%

APBA3

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 rs8102086
dbSNP Clinvar
3752874 1484.13 A G . 0/1 162 NON_SYNONYMOUS_CODING MODERATE None 0.04153 0.04153 0.49646 0.23 0.00 None None None None None None APBA3|0.009354531|81.41%
View grc14378018_exome 19 rs3746120
dbSNP Clinvar
3753769 46.7382 C T . 0/1 17 SYNONYMOUS_CODING LOW None 0.34006 0.34010 0.32226 None None None None None None APBA3|0.009354531|81.41%
View grc14378018_exome 19 rs34868972
dbSNP Clinvar
3753874 1484.13 G A . 0/1 70 SYNONYMOUS_CODING LOW None 0.09185 0.09185 0.11926 None None None None None None APBA3|0.009354531|81.41%

APC2

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 rs265273
dbSNP Clinvar
1467684 218.896 A C . 1/1 18 SYNONYMOUS_CODING LOW None 0.97584 0.97580 None None None None None None APC2|0.091060491|53.03%,C19orf25|0.004133103|86.83%

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%
View grc14378018_exome 19 rs230261
dbSNP Clinvar
36363470 1484.13 G A . 0/1 167 SYNONYMOUS_CODING LOW None 0.05331 0.05331 0.06020 None None None None None None APLP1|0.135630209|45.02%
View grc14378018_exome 19 rs2227909
dbSNP Clinvar
36370011 1484.13 G A . 0/1 79 SYNONYMOUS_CODING LOW None 0.11522 0.11520 0.11664 None None None None None None APLP1|0.135630209|45.02%

APOE

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 rs429358
dbSNP Clinvar
45411941 790.953 T C . 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.15056 0.15060 0.14163 1.00 0.00 None None None None None None APOE|0.925476831|2.86%

ARHGAP33

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 rs2291067
dbSNP Clinvar
36273534 1484.13 G A,T . 0/1 170 SYNONYMOUS_CODING LOW None 0.18411 0.18410 0.16546 None None None None None None ARHGAP33|0.074124913|56.5%
View grc14378018_exome 19 rs62112163
dbSNP Clinvar
36275074 1484.13 G A . 0/1 49 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.18331 0.18330 0.15949 None None None None None None ARHGAP33|0.074124913|56.5%

ARHGEF18

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 rs9329368
dbSNP Clinvar
7533850 1484.13 A G . 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.83427 0.83430 0.18783 1.00 0.00 None None None None None None ARHGEF18|0.021386843|73.49%
View grc14378018_exome 19 rs2287918
dbSNP Clinvar
7528734 1484.13 A G . 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.83247 0.83250 0.19104 0.68 0.00 None None None None None None ARHGEF18|0.021386843|73.49%
View grc14378018_exome 19 rs2303142
dbSNP Clinvar
7532252 1484.13 G C,A . 0/1 86 SYNONYMOUS_CODING LOW None 0.22824 0.22820 0.19109 None None None None None None ARHGEF18|0.021386843|73.49%
View grc14378018_exome 19 rs10405143
dbSNP Clinvar
7533767 17.5448 T G . 0/1 8 SYNONYMOUS_CODING LOW None 0.79054 0.79050 0.22986 None None None None None None ARHGEF18|0.021386843|73.49%
View grc14378018_exome 19 rs2287914
dbSNP Clinvar
7524846 1484.13 C T . 0/1 117 SYNONYMOUS_CODING LOW None 0.18730 0.18730 0.20567 None None None None None None ARHGEF18|0.021386843|73.49%
View grc14378018_exome 19 rs6603073
dbSNP Clinvar
7506808 236.814 C T . 0/1 49 SYNONYMOUS_CODING LOW None 0.02037 0.02037 0.01792 None None None None None None ARHGEF18|0.021386843|73.49%

ARID3A

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 rs3826948
dbSNP Clinvar
929678 34.0671 G A . 1/1 8 SYNONYMOUS_CODING LOW None 0.46086 0.46090 0.42350 None None None None None None ARID3A|0.039022569|66.1%
View grc14378018_exome 19 rs1051505
dbSNP Clinvar
971949 1484.13 G A . 1/1 104 NON_SYNONYMOUS_CODING MODERATE None 0.02935 0.71870 0.17055 0.34 0.00 -0.03 None None None None None None ARID3A|0.039022569|66.1%
View grc14378018_exome 19 rs1799595
dbSNP Clinvar
929753 1484.13 A G . 1/1 43 SYNONYMOUS_CODING LOW None 0.88419 0.88420 0.12487 None None None None None None ARID3A|0.039022569|66.1%
View grc14378018_exome 19 rs1051504
dbSNP Clinvar
971933 1484.13 A G . 1/1 99 SYNONYMOUS_CODING LOW None 0.59485 0.59480 0.27105 None None None None None None ARID3A|0.039022569|66.1%
View grc14378018_exome 19 rs6510986
dbSNP Clinvar
966693 1484.13 C T . 1/1 117 SYNONYMOUS_CODING LOW None 0.71486 0.71490 0.18296 None None None None None None ARID3A|0.039022569|66.1%
View grc14378018_exome 19 rs12608658
dbSNP Clinvar
965043 70.9408 T C . 1/1 12 SYNONYMOUS_CODING LOW None 0.93890 0.93890 0.05167 None None None None None None ARID3A|0.039022569|66.1%

ARRDC5

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 rs2779168
dbSNP Clinvar
4902754 1484.13 G A . 1/1 76 SYNONYMOUS_CODING LOW None 0.12939 0.12940 0.26478 None None None None None None ARRDC5|0.003994483|87.03%

ASPDH

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 rs12977172
dbSNP Clinvar
51015404 1484.13 T C . 1/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.79593 0.79590 0.23869 0.49 0.00 None None None None None None ASPDH|0.011680011|79.47%

ATF5

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 rs283525
dbSNP Clinvar
50435747 1484.13 T C . 0/1 39 SYNONYMOUS_CODING LOW None 0.66813 0.66810 0.38590 None None None None None None ATF5|0.036517544|66.96%
View grc14378018_exome 19 rs61742136
dbSNP Clinvar
50436115 1484.13 C T . 0/1 170 SYNONYMOUS_CODING LOW None 0.03914 0.03914 0.03579 None None None None None None ATF5|0.036517544|66.96%
View grc14378018_exome 19 rs283526
dbSNP Clinvar
50435862 109.755 C T . 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.66853 0.66850 0.35644 0.46 0.00 None None None None None None ATF5|0.036517544|66.96%