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
RS1949425904 GRIN2B Health Risk Likely pathogenic Complex neurodevelopmental disorder, Intellectual disability
RS1949426932 GRIN2B Health Risk Pathogenic 7 conditions, 7 conditions
RS1949427787 GRIN2B Health Risk Pathogenic Intellectual disability, autosomal dominant 6
RS1949430414 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1949430616 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1949430890 RB1 Health Risk Likely pathogenic Retinoblastoma, Retinoblastoma
RS1949432057 RB1 Health Risk Pathogenic/Likely pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1949433098 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1949433250 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1949433358 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1949455055 POMT1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1949470660 PIK3C2G Health Risk Likely pathogenic Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula
RS1949475355 POMT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS1949484214 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS1949484627 RB1 Health Risk Likely pathogenic Retinoblastoma, Retinoblastoma
RS1949500525 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS1949504456 CD27 Health Risk Pathogenic/Likely pathogenic Lymphoproliferative syndrome 2, Lymphoproliferative syndrome 2
RS1949506548 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1949510530 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS1949512290 PAK1 Health Risk Likely pathogenic Intellectual developmental disorder with macrocephaly, seizures
RS1949512456 CLPB Health Risk Pathogenic 3-methylglutaconic aciduria, type VIIB
RS1949519149 PAK1 Health Risk Pathogenic PAK1-related neurodevelopmental disorders, PAK1-related disorder
RS1949626483 POMT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1949650831 NADSYN1 Health Risk Pathogenic Vertebral, cardiac
RS1949678319 LRP6 Health Risk Pathogenic —
RS1949691247 FGD4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1949708829 MPZL2 Health Risk Likely pathogenic Hearing loss, autosomal recessive 111
RS1949709115 SBF2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1949714664 IQCB1 Health Risk Likely pathogenic Senior-Loken syndrome 5, Senior-Loken syndrome 5
RS1949715312 IQCB1 Health Risk Likely pathogenic Senior-Loken syndrome 5, Senior-Loken syndrome 5
RS1949865586 NHEJ1 Health Risk Pathogenic Cernunnos-XLF deficiency, Cernunnos-XLF deficiency
RS1949866551 WBP11 Health Risk Pathogenic WBP11 spliceosomopathy, Vertebral
RS1949868116 WBP11 Health Risk Likely pathogenic WBP11 spliceosomopathy, Vertebral
RS1949868667 NHEJ1 Health Risk Likely pathogenic Cernunnos-XLF deficiency, Cernunnos-XLF deficiency
RS1949874222 POMT1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy
RS1949874442 WBP11 Health Risk Pathogenic WBP11 spliceosomopathy, WBP11 spliceosomopathy
RS1949876445 NHEJ1 Health Risk Pathogenic Cernunnos-XLF deficiency, Cernunnos-XLF deficiency
RS1949876985 NHEJ1 Health Risk Pathogenic Cernunnos-XLF deficiency, Cernunnos-XLF deficiency
RS1949898946 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS1949900423 WBP11 Health Risk Likely pathogenic Vertebral, cardiac
RS1949904868 CBL Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1949905314 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, CBL-related disorder
RS1949907918 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS1949924324 EHMT1 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1949924892 EHMT1;LOC130003148 Health Risk Pathogenic —
RS1949929359 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1949937601 SUCLA2 Health Risk Likely pathogenic —
RS1949945068 KMT2A Health Risk Pathogenic —
RS1949946887 KMT2A Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1949950865 KMT2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1949951589 KMT2A Health Risk Pathogenic —
RS1949951871 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1949951988 KMT2A Health Risk Pathogenic —
RS1949956477 KMT2A Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1949960915 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1949967549 KMT2A Health Risk Pathogenic/Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1949969239 CBL Health Risk Conflicting classifications of pathogenicity Juvenile myelomonocytic leukemia, Cardiovascular phenotype
RS1949969576 CBL Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1949970237 KMT2A Health Risk Pathogenic/Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1949974650 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS1949975069 KMT2A Health Risk Pathogenic —
RS1949980614 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1949984032 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1949984655 KMT2A Health Risk Pathogenic Microcephaly, Microcephaly
RS1949996840 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS1950023882 LRP6 Health Risk Pathogenic Tooth agenesis, selective
RS1950043713 MPDZ Health Risk Pathogenic/Likely pathogenic Hydrocephalus, nonsyndromic
RS1950067375 CBL Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, RASopathy
RS1950068369 GRIN2B Health Risk Pathogenic Intellectual disability, autosomal dominant 6
RS1950068661 KMT2A Health Risk Pathogenic —
RS1950069134 KMT2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1950069464 GRIN2B Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1950069601 GRIN2B Health Risk Likely pathogenic —
RS1950071002 KMT2A Health Risk Pathogenic —
RS1950071303 KMT2A Health Risk Likely pathogenic —
RS1950080058 ZMYND11 Health Risk Pathogenic —
RS1950106219 KMT2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1950106455 KMT2A Health Risk Conflicting classifications of pathogenicity Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1950124035 SUCLA2 Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS1950137753 KMT2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1950141561 KMT2A Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1950141836 KMT2A Health Risk Pathogenic —
RS1950143446 KMT2A Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1950196208 SUCLA2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS1950203796 KMT2A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1950250678 YAP1 Health Risk Likely pathogenic Uveal coloboma-cleft lip and palate-intellectual disability, Uveal coloboma-cleft lip and palate-intellectual disability
RS1950265792 POMT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS1950284130 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS1950371099 KMT2A Health Risk Pathogenic —
RS1950378051 KMT2A Health Risk Likely pathogenic Rubinstein Taybi like syndrome, Rubinstein Taybi like syndrome
RS1950408951 KMT2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1950436398 KMT2A Health Risk Conflicting classifications of pathogenicity Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1950444447 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1950445312 KMT2A Health Risk Pathogenic Inborn genetic diseases, Wiedemann-Steiner syndrome
RS1950456995 CAPN5 Health Risk Pathogenic Proliferative vitreoretinopathy, Proliferative vitreoretinopathy
RS1950474024 C1QTNF5 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1950502854 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1950507886 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS1950517316 MFRP Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS1950519775 KMT2A Health Risk Conflicting classifications of pathogenicity —
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