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
RS1556024541 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556024875 THOC2 Health Risk Pathogenic/Likely pathogenic X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome
RS1556025314 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, PHEX-related disorder
RS1556025936 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556025968 PHEX Health Risk Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556025980 GPC4 Health Risk Pathogenic Keipert syndrome, Keipert syndrome
RS1556025994 PHEX Health Risk Pathogenic Hypophosphatemic rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556026027 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556026033 PHEX Health Risk Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556026042 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556026984 HPRT1 Health Risk Likely pathogenic Nephrolithiasis/nephrocalcinosis, Nephrolithiasis/nephrocalcinosis
RS1556028034 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556028269 GPC4 Health Risk Pathogenic Keipert syndrome, Keipert syndrome
RS1556029499 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556029516 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556029519 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556029841 ZIC3 Health Risk Pathogenic Heterotaxy, visceral
RS1556030169 HPRT1 Health Risk Likely pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
RS1556030344 HPRT1 Health Risk Pathogenic —
RS1556030465 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556030487 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556030502 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Thyroid cancer
RS1556030707 NHS Health Risk Pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS1556032708 PLA2G6 Health Risk Pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS1556035617 VMA21 Health Risk Pathogenic X-linked myopathy with excessive autophagy, X-linked myopathy with excessive autophagy
RS1556035795 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556035817 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556036014 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556036052 THOC2 Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome
RS1556037290 NHS Health Risk Pathogenic —
RS1556037429 DMD Health Risk Pathogenic —
RS1556037455 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556038028 NHS Health Risk Pathogenic Inborn genetic diseases, Nance-Horan syndrome
RS1556038232 NHS Health Risk Pathogenic —
RS1556038355 NHS Health Risk Pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS1556039084 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1556039088 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1556039406 NHS Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1556039548 NHS Health Risk Pathogenic —
RS1556039901 NHS Health Risk Pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS1556040444 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556042440 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS1556045698 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556046080 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556046720 ARX Health Risk Pathogenic Hydranencephaly with abnormal genitalia, Hydranencephaly with abnormal genitalia
RS1556046834 OGT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS1556046904 ARX Health Risk Pathogenic X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia
RS1556047901 CACNA1C Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1556049694 ARX Health Risk Pathogenic X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia
RS1556049714 ARX Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 1
RS1556054888 ARX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS1556055108 ARX Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1556056125 ARX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS1556056131 ARX Health Risk Likely pathogenic X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia
RS1556056154 ARX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS1556056354 ARX Health Risk Pathogenic —
RS1556056425 ARX Health Risk Pathogenic —
RS1556056580 ARX Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked
RS1556070724 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556070890 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556071086 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556071123 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556071138 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556091855 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556091873 PHEX Health Risk Pathogenic —
RS1556092261 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1556092459 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS1556092556 LAMP2 Health Risk Pathogenic/Likely pathogenic —
RS1556096780 EFNB1 Health Risk Pathogenic Craniofrontonasal syndrome, Craniofrontonasal syndrome
RS1556098384 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1556098553 EDA Health Risk Pathogenic —
RS1556098570 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, EDA-related disorder
RS1556098733 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1556098806 EDA Health Risk Conflicting classifications of pathogenicity Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1556098978 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1556101420 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS1556101523 LAMP2 Health Risk Pathogenic Danon disease, Cardiovascular phenotype
RS1556101640 LAMP2 Health Risk Pathogenic/Likely pathogenic Danon disease, Danon disease
RS1556105849 EFNB1 Health Risk Likely pathogenic Craniofrontonasal syndrome, Craniofrontonasal syndrome
RS1556105875 EFNB1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1556106222 EFNB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1556106318 EFNB1 Health Risk Conflicting classifications of pathogenicity —
RS1556107481 EFNB1 Health Risk Pathogenic/Likely pathogenic Craniofrontonasal syndrome, Craniofrontonasal syndrome
RS1556107856 EFNB1 Health Risk Likely pathogenic Craniofrontonasal syndrome, Craniofrontonasal syndrome
RS1556107925 EFNB1 Health Risk Pathogenic Craniofrontonasal syndrome, Craniofrontonasal syndrome
RS1556110195 EDA Health Risk Likely pathogenic —
RS1556110308 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1556110379 EDA Health Risk Pathogenic/Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1556110934 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1556112678 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype
RS1556115974 KDM6A Health Risk Pathogenic —
RS1556121448 CASK Health Risk Pathogenic —
RS1556123906 LAMP2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1556124149 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS1556128043 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556128253 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Hypophosphatemic rickets
RS1556135242 PHEX Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556135252 PHEX Health Risk Pathogenic —
RS1556135308 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556135320 PHEX Health Risk Pathogenic —
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