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
RS201603238 LIPA Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease
RS201603256 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS201603384 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS201603580 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS201603899 TUBB1 Health Risk Conflicting classifications of pathogenicity —
RS201604061 CHD8 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with autism and macrocephaly, Inborn genetic diseases
RS201604102 BTD Health Risk Pathogenic/Likely pathogenic Biotinidase deficiency, Inborn genetic diseases
RS201604273 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS201604337 SLC6A5 Health Risk Conflicting classifications of pathogenicity Hyperekplexia 3, Inborn genetic diseases
RS201604887 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS201605109 ADAMTS14 Health Risk Conflicting classifications of pathogenicity —
RS201605273 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS201605296 SALL2 Health Risk Conflicting classifications of pathogenicity SALL2-related disorder, SALL2-related disorder
RS201605347 C2CD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201605414 ALDH4A1 Health Risk Conflicting classifications of pathogenicity Hyperprolinemia type 2, Hyperprolinemia type 2
RS201605654 ZAP70 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency
RS201606169 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS201606177 COL4A1 Health Risk Likely pathogenic Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Hemorrhage
RS201606213 INTS1 Health Risk Conflicting classifications of pathogenicity INTS1-related disorder, INTS1-related disorder
RS201606637 WWOX Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy
RS201607115 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal dominant Alport syndrome
RS201607149 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS201607271 EARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
RS201607490 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS201607698 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 15, Bardet-Biedl syndrome
RS201607834 CNTN1 Health Risk Conflicting classifications of pathogenicity Compton-North congenital myopathy, Inborn genetic diseases
RS201607866 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS201607912 FAM222B Health Risk Conflicting classifications of pathogenicity —
RS201607999 NBAS Health Risk Conflicting classifications of pathogenicity —
RS2016082493 IGF1R Health Risk Pathogenic —
RS201608372 JAG1 Health Risk Conflicting classifications of pathogenicity Isolated Nonsyndromic Congenital Heart Disease, Alagille syndrome due to a JAG1 point mutation
RS201608609 SLC12A2 Health Risk Conflicting classifications of pathogenicity Kilquist syndrome, Hearing loss
RS201608921 SLC26A1 Health Risk Conflicting classifications of pathogenicity Nephrolithiasis, calcium oxalate
RS201609001 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS201609436 GPD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201609442 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS201609461 IFNAR1 Health Risk Pathogenic Immunodeficiency 106, susceptibility to viral infections
RS201610096 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS201610494 BDP1 Health Risk Conflicting classifications of pathogenicity —
RS201610567 VCP Health Risk Conflicting classifications of pathogenicity Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS201610681 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS201610682 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS201611215 SLC7A7 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Inborn genetic diseases
RS201611359 SLC4A1 Health Risk Conflicting classifications of pathogenicity 11 conditions, Inborn genetic diseases
RS201611496 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS201611688 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS201611946 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS201612257 CACNA1A Health Risk Pathogenic —
RS201612374 LHX4 Health Risk Conflicting classifications of pathogenicity Short stature-pituitary and cerebellar defects-small sella turcica syndrome, Inborn genetic diseases
RS201613240 OTOF Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS201613456 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Warburg micro syndrome 2, Martsolf syndrome
RS201613668 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7
RS201613702 CPAMD8 Health Risk Conflicting classifications of pathogenicity CPAMD8-related disorder, Inborn genetic diseases
RS201613746 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS201613747 PLOD3 Health Risk Pathogenic —
RS201613780 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS201613894 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Connective tissue disorder
RS201614038 NFKBIA Health Risk Conflicting classifications of pathogenicity Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2
RS201614105 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS201614191 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS201614215 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 4
RS201614312 TNNI3K Health Risk Conflicting classifications of pathogenicity TNNI3K-related disorder, TNNI3K-related disorder
RS201614446 QRSL1 Health Risk Conflicting classifications of pathogenicity —
RS201614524 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS201614853 BCKDK Health Risk Conflicting classifications of pathogenicity Branched-chain keto acid dehydrogenase kinase deficiency, Branched-chain keto acid dehydrogenase kinase deficiency
RS201615111 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal recessive Alport syndrome
RS201615354 CLN5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS201615847 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS201615936 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS201615997 LEMD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201616111 MACF1 Health Risk Conflicting classifications of pathogenicity —
RS201616211 GOSR2 Health Risk Pathogenic Progressive myoclonic epilepsy type 6, Muscular dystrophy
RS201616704 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Familial infantile myasthenia
RS201616934 NEFL Health Risk Pathogenic Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E
RS201616962 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201617124 ADGRE2 Health Risk Conflicting classifications of pathogenicity —
RS201617246 NUP93 Health Risk Likely pathogenic Nephrotic syndrome, type 12
RS201617511 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, Trigonocephaly 2
RS201617644 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS201617661 PCARE Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS201617723 SLC3A1 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS201617759 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, Retinal dystrophy
RS201617914 CDK4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS201618350 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS201618718 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS201618750 COQ8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive ataxia due to ubiquinone deficiency
RS201618854 TBC1D24 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS201618995 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS201619005 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS201619500 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 1
RS201619538 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS201619646 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS201619712 NSD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201619737 IARS2 Health Risk Conflicting classifications of pathogenicity Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome, Inborn genetic diseases
RS201619743 CFB Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration
RS201619917 SLC4A11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201620100 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS201620155 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS201620358 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Connective tissue disorder
RS201620629 TBX6 Health Risk Conflicting classifications of pathogenicity Spondylocostal dysostosis 5, Spondylocostal dysostosis 5
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