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
RS202191109 EVC2 Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS202191462 ACADSB Health Risk Conflicting classifications of pathogenicity Deficiency of 2-methylbutyryl-CoA dehydrogenase, ACADSB-related disorder
RS202191466 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS202191662 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Inborn genetic diseases
RS202191746 NKX3-2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Inborn genetic diseases
RS202191814 SLC6A19 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202191898 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS202191908 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS202191938 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS202192505 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS202192818 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Episodic pain syndrome
RS202193021 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, ACADS-related disorder
RS202193096 TBX6 Health Risk Conflicting classifications of pathogenicity Spondylocostal dysostosis 5, Scoliosis
RS202193200 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS202193201 FAM161A Health Risk Likely pathogenic Retinitis pigmentosa 28, Retinal dystrophy
RS202193482 ATR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202194008 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS202194206 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, 6 conditions
RS202194245 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Stickler syndrome type 2
RS202194507 TENM3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TENM3-related disorder
RS202194596 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS202194703 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS202195109 ALG11 Health Risk Conflicting classifications of pathogenicity ALG11-congenital disorder of glycosylation, Inborn genetic diseases
RS202195362 FBN3 Health Risk Conflicting classifications of pathogenicity —
RS202195511 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202195651 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS202195680 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS202195756 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram syndrome 1, Inborn genetic diseases
RS202195978 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS202196322 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Heart defect - tongue hamartoma - polysyndactyly syndrome
RS202196752 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Autoinflammatory syndrome
RS202197432 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Inborn genetic diseases
RS202197441 MTOR Health Risk Conflicting classifications of pathogenicity —
RS202197777 TWNK Health Risk Conflicting classifications of pathogenicity TWNK-related disorder, TWNK-related disorder
RS202197835 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS202197853 BRWD3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 93
RS202197951 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, MCCC1-related disorder
RS202198132 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Inborn genetic diseases
RS202198133 SDHD Health Risk Pathogenic Mitochondrial complex 2 deficiency, nuclear type 3
RS202198142 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Cardiovascular phenotype
RS202198207 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome
RS202198282 ABCA4 Health Risk Pathogenic —
RS202198529 DIAPH3 Health Risk Conflicting classifications of pathogenicity —
RS202198533 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS202198738 DSG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202198791 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, Vitreoretinopathy
RS202198942 DTNBP1 Health Risk Conflicting classifications of pathogenicity DTNBP1-related disorder, DTNBP1-related disorder
RS202199079 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS202199158 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS202199288 PLCB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS202199411 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS202199891 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS202200013 PLVAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202200315 CD3E Health Risk Conflicting classifications of pathogenicity Immunodeficiency 18, Immunodeficiency 18
RS202200597 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS202200861 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS202201763 VARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 20, See cases
RS202203322 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS202203360 PROKR2 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia
RS202203523 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, ANKRD11-related disorder
RS202203896 GRID2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202204148 PEX2 Health Risk Pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS202204341 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS202204627 LGI1 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial temporal lobe
RS202204708 ZFPM2 Health Risk Conflicting classifications of pathogenicity 46, XY sex reversal 9
RS202204922 MMP13 Health Risk Likely pathogenic —
RS202204936 NBEAL2 Health Risk Conflicting classifications of pathogenicity Gray platelet syndrome, Gray platelet syndrome
RS202205093 OPA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202205180 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Inborn genetic diseases
RS202205643 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype
RS2022057 SPTA1 Health Risk Pathogenic/Likely pathogenic Hemolytic anemia, Hemolytic anemia
RS202206216 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS202206540 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS202206564 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS202207154 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS202207238 NEXMIF Health Risk Conflicting classifications of pathogenicity NEXMIF-related disorder, NEXMIF-related disorder
RS202207627 COX10 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS202207690 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS202207758 CDH2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202207834 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS202207965 LMBRD1 Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria and homocystinuria type cblF, Donnai-Barrow syndrome
RS202208051 TMIE Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 6, TMIE-related disorder
RS202208107 ADAMTSL4 Health Risk Pathogenic —
RS202208376 GPR179 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202208393 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHD7-related disorder
RS202208526 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS202208560 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS202208861 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS202209013 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS202209156 CHRND Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, CHRND-related disorder
RS202209298 COL4A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
RS202209668 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS202209699 SLC37A4 Health Risk Conflicting classifications of pathogenicity Glucose-6-phosphate transport defect, SLC37A4-related disorder
RS202209921 DOCK6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DOCK6-related disorder
RS202210004 DMP1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic rickets, autosomal recessive
RS202210023 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS202210310 C3 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly
RS202210475 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, COL4A4-related disorder
RS202210810 ALDOB Health Risk Conflicting classifications of pathogenicity Hereditary fructosuria, Hereditary fructosuria
RS202210819 KIZ Health Risk Pathogenic Retinitis pigmentosa 69, Retinal dystrophy
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