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
RS2147193875 RS1 Health Risk Pathogenic —
RS2147193882 TCF20 Health Risk Conflicting classifications of pathogenicity Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2147193941 RS1 Health Risk Pathogenic —
RS2147193970 CDKL5;RS1 Health Risk Pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS2147194007 RS1 Health Risk Pathogenic —
RS2147194034 RS1 Health Risk Likely pathogenic —
RS2147194138 RS1 Health Risk Pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS2147194217 RS1 Health Risk Likely pathogenic —
RS2147194234 RS1 Health Risk Pathogenic/Likely pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS2147194427 RPGR Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2147194890 PI4KA Health Risk Pathogenic Spastic paraplegia 84, autosomal recessive
RS2147195037 CIC Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2147195548 COL9A3 Health Risk Likely pathogenic —
RS2147195552 COL9A3 Health Risk Pathogenic Epiphyseal dysplasia, multiple
RS2147195624 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Retinitis pigmentosa 3
RS2147195786 TCF20 Health Risk Pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2147196175 TCF20 Health Risk Pathogenic —
RS2147196982 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2147197034 TCF20 Health Risk Pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2147197113 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS2147197209 RPGR Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2147197281 RPGR Health Risk Pathogenic X-linked cone-rod dystrophy 1, X-linked cone-rod dystrophy 1
RS2147197552 RPGR Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2147197584 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Primary ciliary dyskinesia
RS2147197604 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 3, RPGR-related retinopathy
RS2147197770 RPGR Health Risk Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS2147197808 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2147197831 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2147197866 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2147197882 EDA Health Risk Likely pathogenic —
RS2147197891 RPGR Health Risk Pathogenic Retinitis pigmentosa, RPGR-related retinopathy
RS2147198269 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2147198604 RPGR Health Risk Pathogenic —
RS2147198765 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2147198843 CIC Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 45
RS2147199015 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS2147199457 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS2147199519 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS2147199754 CIC Health Risk Likely pathogenic —
RS2147199756 TCF20 Health Risk Pathogenic —
RS2147199844 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 3, Primary ciliary dyskinesia
RS2147200451 RPGR Health Risk Pathogenic —
RS2147200625 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Primary ciliary dyskinesia
RS2147200649 TCF20 Health Risk Pathogenic Global developmental delay, Global developmental delay
RS2147200853 TUBGCP6 Health Risk Pathogenic —
RS2147200895 RPGR Health Risk Pathogenic —
RS2147201026 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Primary ciliary dyskinesia
RS2147201250 CASK Health Risk Likely pathogenic FG syndrome 4, FG syndrome 4
RS2147201709 USP9X Health Risk Likely pathogenic See cases, See cases
RS2147202143 TCF20 Health Risk Likely pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2147203052 RS1 Health Risk Pathogenic —
RS2147203054 RS1 Health Risk Pathogenic —
RS2147203086 RS1 Health Risk Pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS2147203103 RS1 Health Risk Likely pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS2147203119 RS1 Health Risk Pathogenic —
RS2147203200 TCF20 Health Risk Pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2147203790 RPGR Health Risk Pathogenic Retinitis pigmentosa, Primary ciliary dyskinesia
RS2147204677 NDP Health Risk Likely pathogenic Atrophia bulborum hereditaria, Atrophia bulborum hereditaria
RS2147204705 NDP Health Risk Likely pathogenic —
RS2147204715 NDP Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2147204736 NDP Health Risk Likely pathogenic —
RS2147204771 NDP Health Risk Likely pathogenic —
RS2147204801 NDP Health Risk Likely pathogenic Atrophia bulborum hereditaria, Atrophia bulborum hereditaria
RS2147204853 NDP Health Risk Pathogenic Exudative vitreoretinopathy 2, X-linked
RS2147204856 NDP Health Risk Pathogenic —
RS2147205530 COL9A3 Health Risk Pathogenic/Likely pathogenic Connective tissue disorder, Connective tissue disorder
RS2147206769 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS2147207137 TCF20 Health Risk Pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2147207397 TCF20 Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2147208638 COL9A3 Health Risk Likely pathogenic Connective tissue disorder, Connective tissue disorder
RS2147208658 COL9A3 Health Risk Pathogenic Stickler syndrome, type 6
RS2147208997 CEP250 Health Risk Pathogenic —
RS2147209050 FCHO1 Health Risk Pathogenic —
RS2147209054 SHROOM4 Health Risk Likely pathogenic X-linked intellectual disability, Stocco dos Santos type
RS2147209204 NDP Health Risk Pathogenic Atrophia bulborum hereditaria, Atrophia bulborum hereditaria
RS2147209236 NDP Health Risk Pathogenic —
RS2147209281 NDP Health Risk Conflicting classifications of pathogenicity Atrophia bulborum hereditaria, Atrophia bulborum hereditaria
RS2147209764 RS1 Health Risk Likely pathogenic Juvenile retinoschisis, Retinoschisis
RS2147209800 RS1 Health Risk Pathogenic —
RS2147209884 TCF20 Health Risk Pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2147209967 RBM10 Health Risk Likely pathogenic TARP syndrome, TARP syndrome
RS2147210191 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147210233 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS2147210262 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS2147210293 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147210341 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147210651 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS2147211363 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, RPGR-related retinopathy
RS2147211835 RBM10 Health Risk Likely pathogenic TARP syndrome, TARP syndrome
RS2147212231 TCF20 Health Risk Pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2147212542 TCF20 Health Risk Pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2147212644 TCF20 Health Risk Pathogenic —
RS2147213908 TUBGCP6 Health Risk Likely pathogenic —
RS2147213913 PHEX Health Risk Pathogenic —
RS2147213985 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147214022 PHEX Health Risk Pathogenic —
RS2147214059 PHEX Health Risk Pathogenic —
RS2147214096 PHEX Health Risk Pathogenic —
RS2147214114 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147214136 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
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