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
RS1487018944 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS148701985 DNAI1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAI1-related disorder
RS1487020279 NBAS Health Risk Pathogenic —
RS1487025591 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1487026359 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1D
RS1487028109 CNGB3 Health Risk Pathogenic —
RS148703534 SLC3A1 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS148703569 ADAMTS18 Health Risk Conflicting classifications of pathogenicity Microcornea-myopic chorioretinal atrophy, Retinitis pigmentosa
RS148704031 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS148704543 GHRHR Health Risk Conflicting classifications of pathogenicity Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB
RS148705269 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1487064371 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS148706818 TSEN34 Health Risk Conflicting classifications of pathogenicity Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS148707462 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1487081231 AHI1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Joubert syndrome
RS1487082103 B9D2 Health Risk Pathogenic Meckel syndrome, type 10
RS148708451 KCNA5 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS148708516 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS148708735 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS148709148 ABCC8 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Inborn genetic diseases
RS1487094304 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1487094949 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS148709879 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, HLCS-related disorder
RS148709901 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS148710712 DHX37 Health Risk Conflicting classifications of pathogenicity DHX37-related disorder, DHX37-related disorder
RS148711133 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS1487125681 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS148712673 ENAM Health Risk Conflicting classifications of pathogenicity Amelogenesis imperfecta, Amelogenesis imperfecta
RS148712725 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS148713638 DLX3 Health Risk Conflicting classifications of pathogenicity —
RS148713761 HNF1B Health Risk Conflicting classifications of pathogenicity HNF1B-related disorder, HNF1B-related disorder
RS1487138189 KMT2E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148714837 HGF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 39, Autosomal recessive nonsyndromic hearing loss 39
RS148715187 ARHGEF10 Health Risk Conflicting classifications of pathogenicity —
RS148715351 ATP8B1 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 1, Cholestasis
RS148715421 MAGEC1 Health Risk Conflicting classifications of pathogenicity —
RS1487159473 SUMF1 Health Risk Likely pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS1487164913 RNU4ATAC Health Risk Likely pathogenic —
RS148716754 RFT1 Health Risk Conflicting classifications of pathogenicity RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
RS148716975 GSDME Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5
RS1487170309 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS148717498 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS148717983 SERPINF1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS148719252 ANO3 Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Dystonia 24
RS1487194256 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS148720069 SLC5A1 Health Risk Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption, SLC5A1-related disorder
RS148720124 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS148721221 SHROOM4 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS148722376 TTN Health Risk Conflicting classifications of pathogenicity —
RS148722672 TP53RK Health Risk Conflicting classifications of pathogenicity Galloway-Mowat syndrome 4, Galloway-Mowat syndrome 4
RS1487227339 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1487229845 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS148723625 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1487238267 ABCC8 Health Risk Pathogenic —
RS148723879 HKDC1 Health Risk Likely pathogenic Short stature, Short stature
RS148724065 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1487240954 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS148724199 SAMD9 Health Risk Conflicting classifications of pathogenicity SAMD9-related disorder, MIRAGE syndrome
RS1487246488 RELN Health Risk Likely pathogenic Lissencephaly, Lissencephaly
RS148725106 EPCAM Health Risk Conflicting classifications of pathogenicity —
RS148725451 H6PD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148725540 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS148726142 NDUFS1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS148728196 MDN1 Health Risk Conflicting classifications of pathogenicity —
RS1487298929 GLE1 Health Risk Pathogenic —
RS148730591 PPOX Health Risk Conflicting classifications of pathogenicity Variegate porphyria, Variegate porphyria
RS1487307181 DST Health Risk Pathogenic Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS1487309339 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS148731167 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS148731211 VWA2 Health Risk Likely pathogenic Vesicoureteral reflux, Vesicoureteral reflux
RS148731225 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS148731983 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS148732023 LAMB2 Health Risk Conflicting classifications of pathogenicity LAMB2-related disorder, Inborn genetic diseases
RS1487322841 LMOD1 Health Risk Pathogenic Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, Megacystis-microcolon-intestinal hypoperistalsis syndrome 3
RS148732505 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1487325262 COL11A2 Health Risk Conflicting classifications of pathogenicity Rare genetic deafness, Rare genetic deafness
RS148733464 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS1487337443 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS148734139 BUB1 Health Risk Conflicting classifications of pathogenicity BUB1-related disorder, BUB1-related disorder
RS148734700 ADAMTS13 Health Risk Conflicting classifications of pathogenicity ADAMTS13-related disorder, Upshaw-Schulman syndrome
RS1487349760 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS148735447 SRPX2 Health Risk Conflicting classifications of pathogenicity Rolandic epilepsy, intellectual disability
RS148735553 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, Oculotrichoanal syndrome
RS148735841 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 45
RS1487360770 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS148736217 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Café-au-lait macules with pulmonary stenosis
RS148737409 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS148737918 CDC14A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 32, Autosomal recessive nonsyndromic hearing loss 32
RS148738982 CPAP Health Risk Conflicting classifications of pathogenicity Microcephaly 6, primary
RS1487392148 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1487398554 ADCY5 Health Risk Conflicting classifications of pathogenicity —
RS1487408934 VHL Health Risk Likely pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS148741042 OAS1 Health Risk Conflicting classifications of pathogenicity —
RS1487411568 SERPINC1 Health Risk Pathogenic Abnormal thrombosis, Hereditary antithrombin deficiency
RS148741353 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS148742094 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS1487422663 C2CD3 Health Risk Pathogenic —
RS148742372 CTSC Health Risk Pathogenic Periodontitis, aggressive 1
RS148742449 ASCC3 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 81
RS1487424685 PI4KA Health Risk Likely pathogenic —
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