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
RS1556135467 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556135477 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556136635 CD40LG Health Risk Pathogenic —
RS1556138407 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556138590 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556138742 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556138769 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556139575 CD40LG Health Risk Pathogenic —
RS1556143529 CD40LG Health Risk Pathogenic Inborn genetic diseases, Hyper-IgM syndrome type 1
RS1556148392 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556148532 PHEX Health Risk Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556151004 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556151046 PHEX Health Risk Pathogenic —
RS1556151071 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Nonpapillary renal cell carcinoma
RS1556151137 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556151545 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556165162 HDAC8 Health Risk Pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS1556173896 CUL4B Health Risk Conflicting classifications of pathogenicity Pettigrew syndrome, Pettigrew syndrome
RS1556177186 IGSF1 Health Risk Pathogenic —
RS1556181091 IGSF1 Health Risk Pathogenic X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset testicular enlargement
RS1556191599 CHM Health Risk Pathogenic —
RS1556200443 CUL4B Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1556200641 CUL4B Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type
RS1556200989 PHEX Health Risk Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556201034 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556201217 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556205815 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Thyroid cancer
RS1556205980 PHEX Health Risk Pathogenic —
RS1556206093 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556206335 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556206403 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556206910 CUL4B Health Risk Pathogenic X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type
RS1556207100 CHM Health Risk Pathogenic/Likely pathogenic Choroideremia, Choroideremia
RS1556213001 CUL4B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1556216330 CUL4B Health Risk Pathogenic —
RS1556217900 CHM Health Risk Pathogenic Choroideremia, Nonpapillary renal cell carcinoma
RS1556220029 STEEP1 Health Risk Pathogenic Intellectual disability, X-linked 107
RS1556220623 CUL4B Health Risk Pathogenic Inborn genetic diseases, X-linked intellectual disability Cabezas type
RS1556226291 SPECC1L Health Risk Likely pathogenic Autosomal dominant Opitz G/BBB syndrome, Autosomal dominant Opitz G/BBB syndrome
RS1556235119 UBE2A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1556235129 UBE2A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1556235551 UBE2A Health Risk Pathogenic Syndromic X-linked intellectual disability Nascimento type, Syndromic X-linked intellectual disability Nascimento type
RS1556235612 UBE2A Health Risk Pathogenic Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS1556235825 DMD Health Risk Pathogenic —
RS1556244406 UBE2A Health Risk Likely pathogenic Syndromic X-linked intellectual disability Nascimento type, Syndromic X-linked intellectual disability Nascimento type
RS1556254569 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS1556256329 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS1556257317 PHKA1 Health Risk Likely pathogenic Glycogen storage disease IXd, Glycogen phosphorylase kinase deficiency
RS1556257538 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556257626 CHM Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1556263859 GPC3 Health Risk Likely pathogenic —
RS1556267123 PLP1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Hereditary spastic paraplegia 2
RS1556267215 PLP1 Health Risk Pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS1556267287 PLP1 Health Risk Pathogenic Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
RS1556267388 PLP1 Health Risk Pathogenic/Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS1556269487 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS1556270312 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Intellectual disability
RS1556271627 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1
RS1556273075 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2
RS1556273167 PLP1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 2, PLP1-related disorder
RS1556277188 AIFM1 Health Risk Likely pathogenic —
RS1556277815 CHM Health Risk Pathogenic Choroideremia, CHM-related disorder
RS1556280638 DMD Health Risk Pathogenic Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS1556297584 PRPS1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1556297749 GPC3 Health Risk Pathogenic Wilms tumor 1, Wilms tumor 1
RS1556297827 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Intellectual disability
RS1556298136 PAK3 Health Risk Likely pathogenic —
RS1556298855 PAK3 Health Risk Likely pathogenic —
RS1556299510 PHKA1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS1556299881 PRPS1 Health Risk Pathogenic Inborn genetic diseases, Arts syndrome
RS1556300610 PRPS1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Charcot-Marie-Tooth Neuropathy X
RS1556300621 PRPS1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Phosphoribosylpyrophosphate synthetase superactivity
RS1556302160 THOC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, X-linked intellectual disability-short stature-overweight syndrome
RS1556307608 CACNA1C Health Risk Pathogenic Timothy syndrome, Timothy syndrome
RS1556307648 CHM Health Risk Pathogenic —
RS1556307713 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS1556308480 KDM6A Health Risk Pathogenic Inborn genetic diseases, Malignant tumor of urinary bladder
RS1556311265 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS1556313414 RP2 Health Risk Conflicting classifications of pathogenicity Macular dystrophy, Retinal dystrophy
RS1556313447 RP2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1556313474 RP2 Health Risk Likely pathogenic Abnormality of the eye, Abnormality of the eye
RS1556313509 CASK Health Risk Pathogenic —
RS1556313516 CASK Health Risk Pathogenic Inborn genetic diseases, Syndromic X-linked intellectual disability Najm type
RS1556313530 RP2 Health Risk Pathogenic —
RS1556313552 RP2 Health Risk Likely pathogenic Leber congenital amaurosis, Retinitis pigmentosa 3
RS1556313557 RP2 Health Risk Likely pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS1556317780 GRIA3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1556317797 GRIA3 Health Risk Likely pathogenic —
RS1556318579 RP2 Health Risk Pathogenic —
RS1556318627 RP2 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1556318633 RP2 Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa
RS1556318642 RP2 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1556319988 GRIA3 Health Risk Likely pathogenic —
RS1556320083 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS1556323334 ATP11C Health Risk Likely pathogenic X-linked congenital hemolytic anemia, X-linked congenital hemolytic anemia
RS1556327000 PHKA1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS1556328723 KDM6A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1556328781 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS1556329779 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS1556329822 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, Thyroid cancer
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