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
RS777833596 KCNQ3 Health Risk Pathogenic Seizure, Seizure
RS777833871 HESX1 Health Risk Pathogenic Septo-optic dysplasia sequence, Pituitary hormone deficiency
RS777834673 OTOA Health Risk Pathogenic —
RS777834778 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS777836868 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS777837072 TOP2B Health Risk Conflicting classifications of pathogenicity —
RS777839462 NFKB2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS777840832 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS777841031 COL4A3 Health Risk Pathogenic/Likely pathogenic COL4A3-related disorder, COL4A3-related disorder
RS777842421 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS777843533 ZMIZ1 Health Risk Pathogenic Syndromic neurodevelopmental disorder, Syndromic neurodevelopmental disorder
RS777843647 MSH3 Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 4, Endometrial carcinoma
RS777844116 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS777844240 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS777844352 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS777844378 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Intellectual disability
RS777844820 CYP11B1 Health Risk Pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS777845659 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS777845758 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS777847026 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS777848304 LAMA1 Health Risk Pathogenic —
RS777848503 APC Health Risk Pathogenic/Likely pathogenic Familial multiple polyposis syndrome, Hereditary cancer-predisposing syndrome
RS777848510 FLG Health Risk Pathogenic —
RS777849105 CFB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777849213 HK1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 79, Retinal dystrophy
RS777849257 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS777849932 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS777850142 KANK1 Health Risk Conflicting classifications of pathogenicity —
RS777851125 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777851383 SCN8A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, Cognitive impairment with or without cerebellar ataxia
RS777851867 RHO Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS777852863 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS777853621 HEXB Health Risk Pathogenic/Likely pathogenic Sandhoff disease, Sandhoff disease
RS777853943 MUSK Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS777854606 BCS1L Health Risk Conflicting classifications of pathogenicity —
RS777854893 SEPSECS Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D
RS777854895 PEX19 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 12A (Zellweger), Peroxisome biogenesis disorder 12A (Zellweger)
RS77785510 FOXRED1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS777857355 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS777857395 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease
RS777858277 SLMAP Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Brugada syndrome
RS777858863 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS777860588 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS777861752 CARS1 Health Risk Likely pathogenic Microcephaly, developmental delay
RS777861896 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS777862012 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS777862172 SLC17A5 Health Risk Pathogenic/Likely pathogenic Salla disease, Sialic acid storage disease
RS777862375 SMARCD2 Health Risk Conflicting classifications of pathogenicity —
RS777862536 GALNT12 Health Risk Conflicting classifications of pathogenicity —
RS777864641 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS777864781 AARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777866495 MYO3A Health Risk Likely pathogenic —
RS777866589 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS777866900 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS777867809 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777867857 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS777868070 KCNK4 Health Risk Conflicting classifications of pathogenicity Facial dysmorphism, hypertrichosis
RS777868371 AFG3L2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, AFG3L2-related disorder
RS777869134 CEP135 Health Risk Pathogenic Microcephaly 8, primary
RS777869443 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS777870079 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Monogenic diabetes
RS777871903 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS777872290 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS777872545 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS777872719 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS777873298 KIDINS220 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777874127 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777874668 ZBTB20;ZBTB20-AS1 Health Risk Likely pathogenic Primrose syndrome, Primrose syndrome
RS777874744 ABCA7 Health Risk Likely pathogenic —
RS777875035 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS777875339 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS777876563 PITPNM3 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 5, Cone-rod dystrophy 5
RS777876683 CNGB1 Health Risk Pathogenic —
RS777876809 FOXP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS777876822 STAR Health Risk Pathogenic/Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS777877864 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS777877901 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS777878144 IL7R Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS777878165 MTHFS Health Risk Pathogenic —
RS777878533 CNGA3 Health Risk Pathogenic/Likely pathogenic Achromatopsia, Retinal dystrophy
RS777880062 BUB1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1
RS777880479 KIF1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neuropathy
RS777881096 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS777882335 GABRB3 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS777884325 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS777884525 DLD Health Risk Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS777885192 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS777886580 VSX2 Health Risk Conflicting classifications of pathogenicity Microphthalmia, isolated
RS777886684 MVK Health Risk Conflicting classifications of pathogenicity Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
RS777887005 KAT5 Health Risk Conflicting classifications of pathogenicity —
RS777887467 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS777887659 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy
RS777887810 EFTUD2 Health Risk Conflicting classifications of pathogenicity Mandibulofacial dysostosis-microcephaly syndrome, Inborn genetic diseases
RS777887934 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS777888721 CLCN1 Health Risk Pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS777889289 IFT140 Health Risk Pathogenic Retinitis pigmentosa 80, Retinitis pigmentosa 80
RS777889469 BMPR2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Primary pulmonary hypertension
RS777889637 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, Inborn genetic diseases
RS777890307 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS777893196 CPAP Health Risk Pathogenic Seckel syndrome 4, Seckel syndrome 4
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