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
RS1467447359 NDRG1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4
RS146744786 MDN1 Health Risk Conflicting classifications of pathogenicity —
RS146745096 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS146745242 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS146745678 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS146745925 PIEZO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146746317 GRM6 Health Risk Pathogenic —
RS146746360 MARVELD2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49
RS1467465878 PCNT Health Risk Pathogenic —
RS1467467395 IDH3A Health Risk Likely pathogenic —
RS1467469512 ESCO2 Health Risk Pathogenic —
RS146747026 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS146747080 CACNA1D Health Risk Conflicting classifications of pathogenicity Sinoatrial node dysfunction and deafness, Sinoatrial node dysfunction and deafness
RS146747272 ERMARD Health Risk Conflicting classifications of pathogenicity ERMARD-related disorder, ERMARD-related disorder
RS146747331 CAD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1467473320 MYO18B Health Risk Likely pathogenic —
RS146749232 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS146749523 CR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS146750552 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS146751799 HNF4A Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Maturity-onset diabetes of the young
RS1467521069 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, ALDH7A1-related disorder
RS146752598 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, CACNA2D4-related disorder
RS1467526653 METTL5 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder, autosomal recessive 72
RS1467529061 CLCN2 Health Risk Likely pathogenic —
RS1467533825 PLP1 Health Risk Pathogenic Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
RS1467535423 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS146753792 KIDINS220 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KIDINS220-related disorder
RS146754758 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS146754847 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital myopathy with fiber type disproportion
RS1467556424 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS146755676 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I
RS1467561684 CACNA1C Health Risk Likely pathogenic Timothy syndrome, Cardiovascular phenotype
RS146757272 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS146758343 LHFPL5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 67, Autosomal recessive nonsyndromic hearing loss 67
RS146758495 HABP2 Health Risk Conflicting classifications of pathogenicity Factor VII Marburg I Variant Thrombophilia, Factor VII Marburg I Variant Thrombophilia
RS146759786 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 3
RS1467598370 UNC80 Health Risk Conflicting classifications of pathogenicity —
RS146759903 ASXL1 Health Risk Conflicting classifications of pathogenicity ASXL1-related disorder, Inborn genetic diseases
RS1467607949 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS146761713 TJP2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 51, Autosomal dominant nonsyndromic hearing loss 51
RS146762316 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS1467630034 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1467630889 UNC80 Health Risk Pathogenic —
RS146763552 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS1467642208 IFT81 Health Risk Pathogenic —
RS146764702 CABP4 Health Risk Conflicting classifications of pathogenicity Cone-rod synaptic disorder, congenital nonprogressive
RS146764905 SLC29A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SLC29A3-related disorder
RS1467651370 PEX1 Health Risk Pathogenic/Likely pathogenic Zellweger spectrum disorders, Heimler syndrome 1
RS146765163 AARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1467657889 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS146767076 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1467671170 CEP295 Health Risk Pathogenic Seckel syndrome 11, Seckel syndrome 11
RS146767216 BUB1 Health Risk Conflicting classifications of pathogenicity —
RS1467675240 LTBP2 Health Risk Pathogenic —
RS1467680142 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS146768484 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS1467686861 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS146768828 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, MSH3-related disorder
RS146768859 PDLIM3 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy
RS146769635 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1467702188 C8B Health Risk Pathogenic —
RS146770394 CYP1B1 Health Risk Conflicting classifications of pathogenicity Congenital glaucoma, Irido-corneo-trabecular dysgenesis
RS146770430 ALG2 Health Risk Conflicting classifications of pathogenicity ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14
RS146770534 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS1467710236 ATP8B1 Health Risk Likely pathogenic —
RS146772848 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Periventricular heterotopia with microcephaly, autosomal recessive
RS146772976 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS146773511 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Usher syndrome
RS146773641 SEC24D Health Risk Conflicting classifications of pathogenicity Cole-Carpenter syndrome 2, Cole-Carpenter syndrome 2
RS1467745413 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1467749660 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS146775046 B3GALT9 Health Risk Conflicting classifications of pathogenicity —
RS1467755029 AGO2 Health Risk Likely pathogenic Lessel-Kreienkamp syndrome, Lessel-Kreienkamp syndrome
RS1467767014 SCO2 Health Risk Pathogenic Cardioencephalomyopathy, fatal infantile
RS146776859 HAMP Health Risk Conflicting classifications of pathogenicity Hereditary hemochromatosis, Hemochromatosis type 2B
RS146776939 TRPC6 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS146777069 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS146777129 NME8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 6, Primary ciliary dyskinesia
RS146777134 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS146777169 IFNA21 Health Risk risk factor Multisystem inflammatory syndrome in children, Multisystem inflammatory syndrome in children
RS146777264 TSFM Health Risk Conflicting classifications of pathogenicity Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, TSFM-related disorder
RS146778076 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS1467815062 CYP7B1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 5A
RS146782642 CLN6 Health Risk Conflicting classifications of pathogenicity Ceroid lipofuscinosis, neuronal
RS146783211 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS146783338 NHEJ1 Health Risk Likely pathogenic Cernunnos-XLF deficiency, Cernunnos-XLF deficiency
RS146783539 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Cone-rod dystrophy 15
RS1467838102 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1467848128 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS146785168 PRKG1 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 8
RS146785465 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS146785675 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, SI-related disorder
RS146785878 UPF3B Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability 14, Inborn genetic diseases
RS1467862243 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS146786246 REST Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146786265 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS146786437 JUP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Naxos disease
RS146786552 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, Age related macular degeneration 2
RS146786766 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, TYK2-related disorder
RS146787541 DCDC2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
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