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
RS2519525946 DDX3X Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 102
RS2519527570 DDX3X Health Risk Conflicting classifications of pathogenicity —
RS2519528965 PHF8 Health Risk Likely pathogenic Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type
RS2519538159 EFNB1 Health Risk Pathogenic —
RS2519538222 EFNB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2519538409 EFNB1 Health Risk Pathogenic —
RS2519539191 EFNB1 Health Risk Likely pathogenic Craniofrontonasal syndrome, Craniofrontonasal syndrome
RS2519539204 EFNB1 Health Risk Pathogenic —
RS2519539219 EFNB1 Health Risk Pathogenic —
RS2519539767 EFNB1 Health Risk Pathogenic —
RS2519541632 KDM5C Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Syndromic X-linked intellectual disability Claes-Jensen type
RS2519561020 MBTPS2 Health Risk Conflicting classifications of pathogenicity Keratosis follicularis spinulosa decalvans, X-linked
RS2519568342 RPS6KA3 Health Risk Pathogenic Coffin-Lowry syndrome, Thyroid cancer
RS2519570856 ALAS2 Health Risk Likely pathogenic —
RS2519572758 RPS6KA3 Health Risk Pathogenic Coffin-Lowry syndrome, Intellectual disability
RS2519572888 RPS6KA3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519573317 RPS6KA3 Health Risk Pathogenic Coffin-Lowry syndrome, Intellectual disability
RS2519573579 RPS6KA3 Health Risk Likely pathogenic Coffin-Lowry syndrome, Coffin-Lowry syndrome
RS2519576126 ALAS2 Health Risk Likely pathogenic —
RS2519576302 ALAS2 Health Risk Pathogenic —
RS2519588473 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS2519592343 ALAS2 Health Risk Likely pathogenic X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1
RS2519597816 ALAS2 Health Risk Likely pathogenic X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1
RS2519599125 AR Health Risk Likely pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS2519599338 KDM5C Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519599390 AR Health Risk Pathogenic —
RS2519600811 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS2519600815 PLXNB2 Health Risk Pathogenic See cases, See cases
RS2519601426 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS2519601620 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS2519601643 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS2519603661 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS2519604922 RPS6KA3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519604950 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS2519606477 NYX Health Risk Pathogenic —
RS2519607262 NYX Health Risk Likely pathogenic Congenital stationary night blindness 1A, Congenital stationary night blindness 1A
RS2519607540 NYX Health Risk Pathogenic —
RS2519607633 NYX Health Risk Pathogenic —
RS2519607721 NYX Health Risk Conflicting classifications of pathogenicity —
RS2519607953 BCOR Health Risk Likely pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS2519608153 AR Health Risk Likely pathogenic AR-related disorder, AR-related disorder
RS2519608175 NYX Health Risk Pathogenic —
RS2519608179 NYX Health Risk Pathogenic —
RS2519608394 NYX Health Risk Likely pathogenic Congenital stationary night blindness 1A, Congenital stationary night blindness 1A
RS2519608457 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS2519608553 NYX Health Risk Pathogenic —
RS2519608703 AR Health Risk Likely pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS2519608979 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS2519609985 AR Health Risk Pathogenic Kennedy disease, Androgen resistance syndrome
RS2519610009 AR Health Risk Likely pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS2519610755 AR Health Risk Likely pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS2519612464 AR Health Risk Pathogenic/Likely pathogenic Androgen resistance syndrome, Kennedy disease
RS2519612537 AR Health Risk Likely pathogenic AR-related disorder, AR-related disorder
RS2519612540 AR Health Risk Likely pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS2519612941 RPS6KA3 Health Risk Pathogenic Coffin-Lowry syndrome, Intellectual disability
RS2519613503 PQBP1 Health Risk Likely pathogenic Renpenning syndrome, Renpenning syndrome
RS2519616140 ARHGEF9 Health Risk Pathogenic Developmental and epileptic encephalopathy, 8
RS2519616169 ARHGEF9 Health Risk Pathogenic —
RS2519618086 PQBP1 Health Risk Pathogenic Renpenning syndrome, Renpenning syndrome
RS2519619288 NHS Health Risk Pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS2519619514 NHS Health Risk Pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS2519619667 PQBP1 Health Risk Pathogenic Renpenning syndrome, Renpenning syndrome
RS2519619779 NHS Health Risk Likely pathogenic NHS-related disorder, NHS-related disorder
RS2519620235 NHS Health Risk Pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS2519625017 RPS6KA3 Health Risk Pathogenic Coffin-Lowry syndrome, Coffin-Lowry syndrome
RS2519625038 RPS6KA3 Health Risk Likely pathogenic RPS6KA3-related disorder, RPS6KA3-related disorder
RS2519625088 RPS6KA3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519625318 PQBP1 Health Risk Pathogenic —
RS2519625438 RPS6KA3 Health Risk Likely pathogenic RPS6KA3-related disorder, RPS6KA3-related disorder
RS2519628292 KDM5C Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519629641 PQBP1 Health Risk Likely pathogenic Renpenning syndrome, Renpenning syndrome
RS2519631746 OPHN1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519633211 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2519633348 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2519634487 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2519636860 DMD Health Risk Pathogenic Muscular dystrophy, Muscular dystrophy
RS2519639584 RPS6KA3 Health Risk Pathogenic Coffin-Lowry syndrome, Intellectual disability
RS2519639907 RPS6KA3 Health Risk Pathogenic Coffin-Lowry syndrome, Intellectual disability
RS2519640130 RPS6KA3 Health Risk Pathogenic RPS6KA3-related disorder, Coffin-Lowry syndrome
RS2519642745 SPIN4 Health Risk Pathogenic Lui-Jee-Baron syndrome, Lui-Jee-Baron syndrome
RS2519644564 SLC35A2 Health Risk Pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS2519645163 SLC35A2 Health Risk Pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS2519645527 IL2RG Health Risk Likely pathogenic —
RS2519645536 IL2RG Health Risk Likely pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2519645541 IL2RG Health Risk Likely pathogenic —
RS2519645571 IL2RG Health Risk Likely pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2519645580 IL2RG Health Risk Likely pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2519646504 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2519646510 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2519646609 IL2RG Health Risk Likely pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2519646646 IL2RG Health Risk Likely pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2519646713 IL2RG Health Risk Likely pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2519646723 IL2RG Health Risk Likely pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2519646730 IL2RG Health Risk Likely pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2519647063 IL2RG Health Risk Likely pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2519647139 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2519647187 SLC35A2 Health Risk Likely pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS2519647207 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2519647217 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2519647255 IL2RG Health Risk Likely pathogenic See cases, See cases
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