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
RS781135153 FLNC Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 26, Cardiovascular phenotype
RS781135190 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS781135874 LAMB2 Health Risk Conflicting classifications of pathogenicity Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS781137026 NAGA Health Risk Pathogenic/Likely pathogenic Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency
RS781137251 NEU1 Health Risk Conflicting classifications of pathogenicity Sialidosis type 2, Sialidosis type 2
RS781137708 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS781137734 NTRK2 Health Risk Conflicting classifications of pathogenicity —
RS781137936 EMC1 Health Risk Conflicting classifications of pathogenicity Cerebellar atrophy, visual impairment
RS781138096 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-related disorder, Wolfram syndrome 1
RS781138300 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS781138367 ALX1 Health Risk Likely pathogenic Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome, Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
RS781139561 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS781139634 DNMT3A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS781140058 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS781140315 MED25 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
RS781141343 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS781141738 ITPR1 Health Risk Conflicting classifications of pathogenicity —
RS781142774 AUH Health Risk Pathogenic 3-methylglutaconic aciduria type 1, 3-methylglutaconic aciduria type 1
RS781143539 GATA4 Health Risk Conflicting classifications of pathogenicity Atrioventricular septal defect 4, Atrioventricular septal defect 4
RS781143696 KIF5A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 10, Spastic paraplegia
RS781144010 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS781144303 KCNQ2 Health Risk Pathogenic —
RS781144356 ADAMTSL4 Health Risk Pathogenic —
RS781144604 COL7A1 Health Risk Conflicting classifications of pathogenicity —
RS781145070 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS781145102 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS781147524 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS781147961 POC1B Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 20, Cone-rod dystrophy 20
RS781148814 PCDH15 Health Risk Pathogenic Usher syndrome type 1F, Rare genetic deafness
RS781149699 ACAD9 Health Risk Pathogenic/Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS781151070 USB1 Health Risk Conflicting classifications of pathogenicity —
RS781151745 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS781151826 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS781152868 GBA1 Health Risk Conflicting classifications of pathogenicity Gaucher disease, Gaucher disease
RS781153452 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS781153870 TYMP Health Risk Conflicting classifications of pathogenicity Mitochondrial neurogastrointestinal encephalomyopathy, Mitochondrial neurogastrointestinal encephalomyopathy
RS781154198 MBD5 Health Risk Conflicting classifications of pathogenicity See cases, Intellectual disability
RS781156334 DNAAF4 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 25, Primary ciliary dyskinesia
RS781156556 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS781156571 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS781158121 NOTCH3 Health Risk Pathogenic —
RS781159405 LPL Health Risk Likely pathogenic —
RS781159482 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4
RS781159539 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781160014 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity —
RS781161516 FLG Health Risk Pathogenic —
RS781161543 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS781162491 SPINK1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS781162510 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781162787 MORC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2Z, Tip-toe gait
RS781163298 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS781163337 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS781163705 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Alport syndrome
RS781164042 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS781164296 DNAJC5 Health Risk Conflicting classifications of pathogenicity Ceroid lipofuscinosis, neuronal
RS781165041 TTN Health Risk Conflicting classifications of pathogenicity TTN-related disorder, TTN-related disorder
RS78116655 RSPH3 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 32, Inborn genetic diseases
RS781166982 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS781168350 POLG Health Risk Conflicting classifications of pathogenicity Premature ovarian failure, Inborn genetic diseases
RS781169306 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS781169371 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 9, Bardet-Biedl syndrome
RS781171206 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS781171287 PTCH2 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Basal cell carcinoma
RS781171561 SFXN4 Health Risk Likely pathogenic —
RS781172842 HAL Health Risk Conflicting classifications of pathogenicity Histidinemia, Histidinemia
RS781173081 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS781174906 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome
RS781175694 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 64
RS781177649 LAMC3 Health Risk Pathogenic —
RS781178409 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS781178683 MMP20 Health Risk Likely pathogenic Amelogenesis imperfecta hypomaturation type 2A2, Amelogenesis imperfecta hypomaturation type 2A2
RS781180515 NPHP3 Health Risk Conflicting classifications of pathogenicity NPHP3-related Meckel-like syndrome, Nephronophthisis
RS781181414 PPP3CA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781183228 SLC20A2 Health Risk Pathogenic —
RS781185019 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy
RS781185115 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia
RS781185140 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS781186613 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS781186692 AIFM1 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia, Bieganski type
RS781186923 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781188522 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS781188583 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS781190497 SCN8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS781191515 XPC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ovarian cancer
RS781191851 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS781192476 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS781192528 ZNF408 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 72, Retinal dystrophy
RS781194178 POLK Health Risk Pathogenic Prostate cancer, Prostate cancer
RS781195170 XPA Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS78119534 SDHAF1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS781195579 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS781196395 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, TTN-related disorder
RS781196632 ALOXE3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781197929 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS781198326 AHI1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Joubert syndrome
RS781198373 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type IV
RS781199182 ACP5 Health Risk Pathogenic/Likely pathogenic Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS781199890 TREX1 Health Risk Pathogenic/Likely pathogenic Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Aicardi-Goutieres syndrome 1
RS781200540 PCDH12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781200968 CHD5 Health Risk Likely pathogenic Global developmental delay, Seizure
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