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
RS2141506264 KRAS Health Risk Pathogenic —
RS2141509652 KRAS Health Risk Likely pathogenic Noonan syndrome 3, Noonan syndrome 3
RS2141509708 KRAS Health Risk Likely pathogenic Venous malformation, Venous malformation
RS2141509791 KRAS Health Risk Likely pathogenic —
RS2141509883 KRAS Health Risk Likely pathogenic RASopathy, Noonan syndrome 3
RS2141509932 KRAS Health Risk Pathogenic Capillary Telangiectasia, Brain
RS2141509973 KRAS Health Risk Pathogenic Noonan syndrome 3, Noonan syndrome 3
RS2141523598 PLIN1 Health Risk Pathogenic PLIN1-related familial partial lipodystrophy, PLIN1-related familial partial lipodystrophy
RS2141525540 PLIN1 Health Risk Pathogenic PLIN1-related familial partial lipodystrophy, PLIN1-related familial partial lipodystrophy
RS2141531787 ETFA Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2141540660 IFT140 Health Risk Pathogenic/Likely pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS2141540743 SIN3A Health Risk Pathogenic —
RS2141540759 SIN3A Health Risk Pathogenic SIN3A-related intellectual disability syndrome due to a point mutation, SIN3A-related intellectual disability syndrome due to a point mutation
RS2141541431 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS2141541516 ALPK3 Health Risk Pathogenic —
RS2141543695 ETFA Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2141554930 ALDH1A3 Health Risk Pathogenic Isolated microphthalmia 8, Isolated microphthalmia 8
RS2141556264 ALPK3 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2141556375 ALPK3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2141556442 ALPK3 Health Risk Pathogenic —
RS2141556463 ALPK3 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2141556552 ALPK3 Health Risk Pathogenic —
RS2141556595 ALPK3 Health Risk Pathogenic —
RS2141557313 ALPK3 Health Risk Likely pathogenic Cardiomyopathy, familial hypertrophic 27
RS2141557520 ALPK3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2141563800 ACAN Health Risk Likely pathogenic Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
RS2141563841 ACAN Health Risk Pathogenic Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
RS2141566255 BRF1 Health Risk Likely pathogenic Cerebellar-facial-dental syndrome, Cerebellar-facial-dental syndrome
RS2141566449 ACAN Health Risk Likely pathogenic —
RS2141567039 ALPK3 Health Risk Likely pathogenic —
RS2141567062 ACAN Health Risk Likely pathogenic Osteochondritis dissecans, Osteochondritis dissecans
RS2141567430 ALPK3 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Cardiovascular phenotype
RS2141567598 ALPK3 Health Risk Pathogenic —
RS2141567846 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2141567902 ALPK3 Health Risk Pathogenic Cardiomyopathy, familial hypertrophic 27
RS2141568082 ALPK3 Health Risk Likely pathogenic Cardiomyopathy, familial hypertrophic 27
RS2141568088 ALPK3 Health Risk Pathogenic —
RS2141568204 ALPK3 Health Risk Pathogenic —
RS2141568242 ALPK3 Health Risk Pathogenic —
RS2141568675 ALPK3 Health Risk Pathogenic —
RS2141568790 ALPK3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2141569005 ALPK3 Health Risk Pathogenic Cardiomyopathy, familial hypertrophic 27
RS2141569048 ALPK3 Health Risk Pathogenic —
RS2141569123 ALPK3 Health Risk Pathogenic —
RS2141569401 ALPK3 Health Risk Likely pathogenic Cardiomyopathy, familial hypertrophic 27
RS2141570234 ALPK3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2141570246 ALPK3 Health Risk Pathogenic —
RS2141570299 ALPK3 Health Risk Pathogenic Cardiomyopathy, familial hypertrophic 27
RS2141570684 ALPK3 Health Risk Pathogenic —
RS2141570935 ALPK3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2141570949 ALPK3 Health Risk Likely pathogenic —
RS2141570994 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS2141571783 SIN3A Health Risk Pathogenic —
RS2141572840 ALPK3 Health Risk Likely pathogenic —
RS2141573290 ALPK3 Health Risk Likely pathogenic Cardiomyopathy, familial hypertrophic 27
RS2141573395 ALPK3 Health Risk Pathogenic —
RS2141574028 ALPK3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2141575644 ALPK3 Health Risk Likely pathogenic —
RS2141576691 ACAN Health Risk Pathogenic Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
RS2141576820 ACAN Health Risk Pathogenic —
RS2141576857 ACAN Health Risk Conflicting classifications of pathogenicity —
RS2141577390 ACAN Health Risk Likely pathogenic —
RS2141581633 ACAN Health Risk Pathogenic Spondyloepiphyseal dysplasia, Kimberley type
RS2141581781 ACAN Health Risk Pathogenic/Likely pathogenic Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
RS2141581981 ACAN Health Risk Likely pathogenic —
RS2141582868 ACAN Health Risk Pathogenic Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
RS2141585529 ACAN Health Risk Conflicting classifications of pathogenicity —
RS2141585993 ACAN Health Risk Pathogenic Osteochondritis dissecans, Osteochondritis dissecans
RS2141587294 ACAN Health Risk Pathogenic Osteochondritis dissecans, Short stature and advanced bone age
RS2141587301 ACAN Health Risk Pathogenic Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
RS2141587447 ACAN Health Risk Likely pathogenic Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
RS2141587692 ACAN Health Risk Likely pathogenic —
RS2141596294 ACAN Health Risk Likely pathogenic —
RS2141600468 ADAMTS17 Health Risk Likely pathogenic Weill-Marchesani 4 syndrome, recessive
RS2141602054 ACAN Health Risk Likely pathogenic —
RS2141602321 ACAN Health Risk Likely pathogenic —
RS2141606910 ACAN Health Risk Pathogenic Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
RS2141608062 ACAN Health Risk Likely pathogenic Osteochondritis dissecans, Osteochondritis dissecans
RS2141610121 ACAN Health Risk Pathogenic/Likely pathogenic —
RS2141611557 ACAN Health Risk Pathogenic Osteochondritis dissecans, Osteochondritis dissecans
RS2141613985 ACAN Health Risk Likely pathogenic Short stature, Short stature
RS2141619663 ERCC4 Health Risk Pathogenic Xeroderma pigmentosum, group F
RS2141630590 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2141631138 GRIN2A Health Risk Likely pathogenic CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS2141631426 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2141631751 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2141631923 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2141632382 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2141632418 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2141632749 GNPTG Health Risk Likely pathogenic GNPTG-mucolipidosis, Familial cancer of breast
RS2141632937 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2141633130 GNPTG Health Risk Pathogenic —
RS2141633312 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2141634877 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS2141638307 ACAN Health Risk Pathogenic —
RS2141642686 ACAN Health Risk Pathogenic —
RS2141643269 TBC1D2B Health Risk Pathogenic Neurodevelopmental disorder with seizures and gingival overgrowth, Neurodevelopmental disorder with seizures and gingival overgrowth
RS2141643586 TBC1D2B Health Risk Pathogenic Neurodevelopmental disorder with seizures and gingival overgrowth, Neurodevelopmental disorder with seizures and gingival overgrowth
RS2141648298 UMOD Health Risk Likely pathogenic —
RS2141653795 LRRK1 Health Risk Pathogenic Osteosclerotic metaphyseal dysplasia, Osteosclerotic metaphyseal dysplasia
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