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
RS2514240912 SCN1B Health Risk Pathogenic Brugada syndrome 5, Brugada syndrome 5
RS2514247207 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514251900 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS2514252125 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS2514252240 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS2514253574 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS2514255981 CRX Health Risk Likely pathogenic —
RS2514256097 CRX Health Risk Pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS2514256113 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS2514256211 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS2514256232 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS2514256246 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS2514256327 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS2514256545 CRX Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS2514256563 CRX Health Risk Pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS2514256605 CRX Health Risk Pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS2514256689 CRX Health Risk Likely pathogenic CRX-related disorder, CRX-related disorder
RS2514260355 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2514263759 CNOT3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2514264521 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS2514265191 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS2514269634 PRR12 Health Risk Pathogenic Neuroocular syndrome, Neuroocular syndrome
RS2514269834 PRR12 Health Risk Likely pathogenic Neuroocular syndrome, Neuroocular syndrome
RS2514270259 PRR12 Health Risk Likely pathogenic Neuroocular syndrome, Neuroocular syndrome
RS2514270277 PRR12 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2514270612 PRR12 Health Risk Likely pathogenic Neuroocular syndrome, Neuroocular syndrome
RS2514270702 PRR12 Health Risk Pathogenic Neuroocular syndrome, Neuroocular syndrome
RS2514271118 PRR12 Health Risk Pathogenic —
RS2514271250 PRR12 Health Risk Pathogenic —
RS2514271302 PRR12 Health Risk Pathogenic Neuroocular syndrome, Neuroocular syndrome
RS2514271351 PRR12 Health Risk Pathogenic —
RS2514271975 PRR12 Health Risk Likely pathogenic PRR12-related disorder, PRR12-related disorder
RS2514272497 PRR12 Health Risk Pathogenic —
RS2514272636 PRR12 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2514272812 MEGF8 Health Risk Likely pathogenic Carpenter syndrome, Carpenter syndrome
RS2514272936 MEGF8 Health Risk Likely pathogenic MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome
RS2514273561 PRR12 Health Risk Pathogenic —
RS2514274475 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2514274549 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS2514275843 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS2514276377 RYR1 Health Risk Likely pathogenic King Denborough syndrome, King Denborough syndrome
RS2514277569 PRR12 Health Risk Likely pathogenic Neuroocular syndrome, Neuroocular syndrome
RS2514277571 PRR12 Health Risk Likely pathogenic Neuroocular syndrome, Neuroocular syndrome
RS2514279373 PIGN Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2514284663 PIGN Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2514286346 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514287398 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2514293729 PRR12 Health Risk Pathogenic —
RS2514294079 RYR1 Health Risk Likely pathogenic RYR1-related myopathy, RYR1-related myopathy
RS2514294206 RYR1 Health Risk Pathogenic Central core myopathy, Central core myopathy
RS2514295187 RYR1 Health Risk Pathogenic Centronuclear myopathy, Centronuclear myopathy
RS2514296017 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2514296193 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2514299000 SMARCA4 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2514299816 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2514301445 MEGF8 Health Risk Likely pathogenic MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome
RS2514302844 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS2514302884 MYH14 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS2514308338 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514309368 MEGF8 Health Risk Pathogenic MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome
RS2514313327 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514315134 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2514320539 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2514333859 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514334578 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514350543 RSPO4 Health Risk Pathogenic —
RS2514351002 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS2514351010 RYR1 Health Risk Likely pathogenic RYR1-related disorder, Malignant hyperthermia
RS2514351217 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514351347 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514351792 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS2514355269 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514358325 FCHO1 Health Risk Pathogenic —
RS2514358561 RYR1 Health Risk Likely pathogenic Congenital multicore myopathy with external ophthalmoplegia, Congenital multicore myopathy with external ophthalmoplegia
RS2514358771 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS2514360670 MEGF8 Health Risk Likely pathogenic MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome
RS2514360725 MEGF8 Health Risk Likely pathogenic MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome
RS2514360779 MEGF8 Health Risk Pathogenic MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome
RS2514362946 RYR1 Health Risk Likely pathogenic RYR1-related disorder, King Denborough syndrome
RS2514365738 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS2514367178 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2514370569 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514370856 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514373985 TGM6 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 35, Spinocerebellar ataxia type 35
RS2514374700 ZNF808 Health Risk Likely pathogenic See cases, Pancreatic agenesis 3
RS2514383522 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2514389343 MYH14 Health Risk Pathogenic —
RS2514390201 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2514390721 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2514393555 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514395251 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514400257 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514404288 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2514406217 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS2514411278 MYH14 Health Risk Likely pathogenic —
RS2514419171 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2514419360 SNRPB Health Risk Likely pathogenic —
RS2514419722 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS2514421809 MYH14 Health Risk Pathogenic —
RS2514423027 SNRPB Health Risk Likely pathogenic Cerebro-costo-mandibular syndrome, Cerebro-costo-mandibular syndrome
« Prev 1 ... 2262 2263 2264 2265 2266 2267 2268 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →