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
RS77384282 RLBP1 Health Risk Conflicting classifications of pathogenicity Pigmentary retinal dystrophy, Newfoundland cone-rod dystrophy
RS773843495 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS773844127 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS773844428 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS773845144 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS773846546 ATP8B1 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS773847168 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia
RS773848660 IQCB1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS773849106 ASPA Health Risk Conflicting classifications of pathogenicity Fraser syndrome 3, Spongy degeneration of central nervous system
RS773849124 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS773850151 FBXL4 Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 13, Leigh syndrome
RS773850184 ABCC2 Health Risk Pathogenic Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS773850439 ZFHX2 Health Risk Conflicting classifications of pathogenicity —
RS773851007 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS773851192 TMC1 Health Risk Pathogenic/Likely pathogenic Deafness, Hearing loss
RS773852385 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS773852483 SAMHD1 Health Risk Pathogenic/Likely pathogenic Aicardi Goutieres syndrome, Aicardi-Goutieres syndrome 5
RS773853289 KATNIP Health Risk Pathogenic —
RS773853291 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS773854426 TECTA Health Risk Likely pathogenic —
RS773854714 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS773855120 SLC12A1 Health Risk Pathogenic Bartter disease type 1, Bartter disease type 1
RS773855604 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS773855741 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS773857091 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Sick sinus syndrome 2
RS773857479 CDK13 Health Risk Conflicting classifications of pathogenicity Congenital heart defects, dysmorphic facial features
RS773858764 FAM161A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS773858865 IFT80 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS773859296 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS773859400 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS773860217 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773860345 CHD2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS773861137 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS773861155 SLC26A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS773862035 TARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773862084 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 2, Retinitis pigmentosa 74
RS773862320 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS773863936 BRCA2 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS773864188 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS773864390 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiovascular phenotype
RS773864541 COL18A1 Health Risk Pathogenic —
RS773864735 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS773865367 CYP17A1 Health Risk Pathogenic Deficiency of steroid 17-alpha-monooxygenase, Congenital adrenal hyperplasia
RS773865838 ETFA Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS773865874 SPINK5 Health Risk Likely pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS773867024 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS773868595 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Familial hyperinsulinism
RS773868843 GLB1 Health Risk Pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS773872994 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS773873513 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS773874266 KCNT1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy
RS773874693 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS773875298 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS773875669 USH2A Health Risk Pathogenic —
RS773875981 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS773876739 SEPSECS Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 2D, Pontoneocerebellar hypoplasia
RS773877800 SPI1 Health Risk Pathogenic PU.1-mutated agammaglobulinemia, Agammaglobulinemia 10
RS773877975 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS773878112 NEK2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS773878792 SAMD9L Health Risk Conflicting classifications of pathogenicity —
RS773879116 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS773879572 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS773880325 ABCA4 Health Risk Pathogenic —
RS773880430 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS773880589 ABCA3 Health Risk Conflicting classifications of pathogenicity Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
RS773881370 CC2D2A Health Risk Pathogenic/Likely pathogenic Joubert syndrome 9, Joubert syndrome
RS773882783 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS773883374 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS773883586 COL4A5 Health Risk Conflicting classifications of pathogenicity COL4A5-related disorder, X-linked Alport syndrome
RS773883750 MATN3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773884209 RASGRP1 Health Risk Conflicting classifications of pathogenicity —
RS773884973 FKTN Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS773885029 EDAR Health Risk Pathogenic Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type
RS773886415 CYP4F22 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5
RS773886985 MFSD8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS773887305 AHDC1 Health Risk Conflicting classifications of pathogenicity —
RS773887736 ESRRB Health Risk Likely pathogenic —
RS773887880 NAXD Health Risk Pathogenic NAD(P)HX dehydratase deficiency, NAXD-related disorder
RS773888234 TMEM260 Health Risk Pathogenic Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome
RS773888308 OGDHL Health Risk Likely pathogenic Abnormal brain morphology, Yoon-Bellen neurodevelopmental syndrome
RS773888841 EYS Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS773889320 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS773890896 SRCAP Health Risk Conflicting classifications of pathogenicity Floating-Harbor syndrome, Developmental delay
RS773891661 POLR3B Health Risk Likely pathogenic Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS77389229 CC2D1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 3
RS773892644 ABHD5 Health Risk Pathogenic Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis
RS773892755 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS773892921 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS773893129 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Inborn genetic diseases
RS773893598 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS773894295 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Occult macular dystrophy
RS773895230 HAVCR2 Health Risk Conflicting classifications of pathogenicity —
RS773896661 LIFR Health Risk Pathogenic/Likely pathogenic Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1
RS773896695 FBN2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly
RS773897318 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, DYNC2H1-related disorder
RS773898036 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Papillary renal cell carcinoma type 1
RS773898067 ZP1 Health Risk Conflicting classifications of pathogenicity Female infertility due to zona pellucida defect, Inborn genetic diseases
RS773898452 WNK4 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2B, Inborn genetic diseases
RS773898647 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS773900146 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Autosomal dominant nonsyndromic hearing loss 6
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