SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS565870287 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS565875595 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS565885690 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS565889764 SLC22A12 Health Risk Conflicting classifications of pathogenicity Dalmatian hypouricemia, Dalmatian hypouricemia
RS565891017 MLH1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS565891154 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS565893436 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS565893965 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS565896898 AIPL1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 4, Retinitis pigmentosa
RS565900346 PGM3 Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency disease, Immunodeficiency 23
RS565904909 DSG2 Health Risk Likely pathogenic Sudden cardiac death, Sudden cardiac death
RS565910322 GATB Health Risk Pathogenic Cardiomyopathy, mitochondrial
RS565918031 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS565918098 CHD8 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS565927415 PCDHGC4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS565927450 AGXT Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
RS565953623 FBN2 Health Risk Conflicting classifications of pathogenicity FBN2-related disorder, Congenital contractural arachnodactyly
RS565963363 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS565968028 EIF2B5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS565968675 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Transitory neonatal diabetes mellitus
RS565970531 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS565971160 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS565975524 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS565979456 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS565990382 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS565991343 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS565992344 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS565993396 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS565994438 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS565996783 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Transitory neonatal diabetes mellitus
RS565997897 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS566004273 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS566005215 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS566014072 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, Moderate sensorineural hearing impairment
RS566018612 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS566030346 SLC26A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS566044331 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS566045388 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS566057658 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS566059003 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SAMD9-related disorder
RS566059806 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS566060177 CUBN Health Risk Pathogenic/Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
RS566065329 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Legius syndrome
RS566067415 PPP2R5D Health Risk Conflicting classifications of pathogenicity PPP2R5D-related disorder, Inborn genetic diseases
RS566069597 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS566082564 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS566083695 F7 Health Risk Conflicting classifications of pathogenicity Factor VII deficiency, F7-related disorder
RS566102644 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS566103420 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS566110160 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS566110994 SLC29A3 Health Risk Conflicting classifications of pathogenicity H syndrome, H syndrome
RS566116760 PHYH Health Risk Conflicting classifications of pathogenicity Nonsyndromic cleft lip palate, Optic atrophy
RS566129544 KCNJ2 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Short QT syndrome type 3
RS566132150 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS566137469 IFT88 Health Risk Conflicting classifications of pathogenicity —
RS566144272 GP9 Health Risk Conflicting classifications of pathogenicity Bernard Soulier syndrome, Bernard Soulier syndrome
RS566155088 FGFR2 Health Risk Conflicting classifications of pathogenicity Beare-Stevenson cutis gyrata syndrome, Isolated Coronal Synostosis
RS566155738 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Familial hyperinsulinism
RS566164007 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS566165031 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS566166669 PROS1 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein S deficiency, autosomal recessive
RS566170382 KIAA1549 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS566179705 CRPPA Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS566186294 KCNJ2 Health Risk Conflicting classifications of pathogenicity Short QT syndrome type 3, Atrial fibrillation
RS566188777 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS566190241 CPLANE1 Health Risk Conflicting classifications of pathogenicity —
RS566196345 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS566201991 ACTC1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11
RS566204008 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS566210647 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS566213812 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS566223651 MRAP Health Risk Pathogenic Glucocorticoid deficiency 2, Glucocorticoid deficiency 2
RS566235193 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS566240756 SLCO2A1 Health Risk Conflicting classifications of pathogenicity Hypertrophic osteoarthropathy, primary
RS566246733 ZFHX2 Health Risk Conflicting classifications of pathogenicity —
RS566251077 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS566254536 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS566278586 SPG21 Health Risk Conflicting classifications of pathogenicity Mast syndrome, Mast syndrome
RS566281941 PAX6 Health Risk Conflicting classifications of pathogenicity Aniridia 1, Autosomal dominant keratitis
RS566283411 VAPB Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy
RS566285864 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Mucolipidosis type IV
RS566289099 MYOC Health Risk Likely pathogenic Glaucoma 1, open angle
RS566289796 SZT2 Health Risk Conflicting classifications of pathogenicity —
RS566299753 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS566304076 ZFHX2 Health Risk Conflicting classifications of pathogenicity —
RS566304730 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, LPIN2-related disorder
RS566306310 CYP21A2 Health Risk Conflicting classifications of pathogenicity ADRENAL HYPERPLASIA, CONGENITAL
RS566306530 FKBP10 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 11, Osteogenesis imperfecta type 11
RS566317085 ALPL Health Risk Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS566320226 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS566321002 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS566325901 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, Type 2 diabetes mellitus
RS566334716 LMX1B Health Risk Conflicting classifications of pathogenicity Nail-patella syndrome, Nail-patella syndrome
RS566339142 FLT4 Health Risk Conflicting classifications of pathogenicity —
RS566340581 CLASP1;CLASP1-AS1;RNU4ATAC Health Risk Conflicting classifications of pathogenicity CLASP1-related disorder, RNU4ATAC-related disorder
RS566349141 AMPD1 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS566355447 GRM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS566358684 LEMD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS566359654 SLC4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant distal renal tubular acidosis, Hereditary spherocytosis type 4
RS566373471 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
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