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
RS1569359535 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS1569359540 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Thyroid cancer
RS1569360089 HPRT1 Health Risk Pathogenic Lesch-Nyhan syndrome, Lesch-Nyhan syndrome
RS1569360139 HPRT1 Health Risk Likely pathogenic Lesch-Nyhan syndrome, HPRT1-related disorder
RS1569364701 PHEX Health Risk Pathogenic Hypophosphataemia or rickets, Hypophosphataemia or rickets
RS1569369194 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS1569369653 PHEX Health Risk Pathogenic —
RS1569369940 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS1569370887 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1569371303 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1569371330 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS1569371591 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS1569376084 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS1569376229 CD40LG Health Risk Likely pathogenic Hyper-IgM syndrome type 1, Common variable immunodeficiency
RS1569376447 DMD Health Risk Pathogenic —
RS1569376809 DYRK1A Health Risk Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1569376925 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS1569376930 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS1569377237 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS1569377829 CD40LG Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS1569377865 CD40LG Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS1569380062 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Congenital cerebellar hypoplasia
RS1569380375 DYRK1A Health Risk Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1569384962 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1569385075 CUL4B Health Risk Likely pathogenic —
RS1569389364 CUL4B Health Risk Likely pathogenic X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type
RS1569390220 CUL4B Health Risk Pathogenic —
RS1569390976 CUL4B Health Risk Conflicting classifications of pathogenicity —
RS1569391212 PHEX Health Risk Pathogenic —
RS1569392947 GPC3 Health Risk Pathogenic Wilms tumor 1, Wilms tumor 1
RS1569394026 ARX Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked
RS1569395541 ARX Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 1
RS1569398234 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1569398276 EFNB1 Health Risk Pathogenic —
RS1569398624 HUWE1 Health Risk Likely pathogenic —
RS1569398769 PAK3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 30
RS1569398792 PAK3 Health Risk Likely pathogenic History of neurodevelopmental disorder, History of neurodevelopmental disorder
RS1569399945 HUWE1 Health Risk Likely pathogenic Intellectual disability, X-linked syndromic
RS1569401103 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569402390 ELF4 Health Risk Likely pathogenic —
RS1569404780 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1569404873 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1569404950 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1569405174 AMMECR1 Health Risk Pathogenic Short stature, Midface hypoplasia
RS1569406514 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1569407150 EDA Health Risk Conflicting classifications of pathogenicity Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1569407346 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1569408743 GPC3 Health Risk Pathogenic Wilms tumor 1, Wilms tumor 1
RS1569418673 AIFM1 Health Risk Conflicting classifications of pathogenicity AIFM1-related hypomyelination with spondylometaphyseal dysplasia, Spondyloepimetaphyseal dysplasia
RS1569420470 ACSL4 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 63
RS1569420537 SPECC1L Health Risk Pathogenic Teebi hypertelorism syndrome, Teebi hypertelorism syndrome
RS1569420568 SPECC1L Health Risk Pathogenic Teebi hypertelorism syndrome 1, Teebi hypertelorism syndrome
RS1569420590 SPECC1L Health Risk Pathogenic Teebi hypertelorism syndrome, Teebi hypertelorism syndrome 1
RS1569420596 SPECC1L Health Risk Pathogenic Teebi hypertelorism syndrome, Teebi hypertelorism syndrome
RS1569420861 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569423317 ACSL4 Health Risk Pathogenic Intellectual disability, X-linked 63
RS1569426054 GPC3 Health Risk Likely pathogenic Simpson-Golabi-Behmel syndrome type 1, Simpson-Golabi-Behmel syndrome type 1
RS1569427275 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS1569427311 PLP1 Health Risk Pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS1569427535 DMD Health Risk Pathogenic —
RS1569427707 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS1569428537 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS1569429756 CASK Health Risk Pathogenic/Likely pathogenic Intellectual disability, CASK-related
RS1569431986 PHEX Health Risk Pathogenic —
RS1569434045 PHEX Health Risk Pathogenic Hypophosphatemic rickets, Hypophosphatemic rickets
RS1569438496 SPECC1L Health Risk Likely pathogenic Teebi hypertelorism syndrome, Teebi hypertelorism syndrome
RS1569439669 RBMX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1569442206 PHEX Health Risk Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1569442989 GRIA3 Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability 94, Neurodevelopmental disorder
RS1569451994 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569452000 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569458475 ARHGEF9 Health Risk Pathogenic Developmental and epileptic encephalopathy, 8
RS1569458883 OCRL Health Risk Pathogenic/Likely pathogenic Lowe syndrome, Dent disease type 2
RS1569459580 PAK3 Health Risk Likely pathogenic Intellectual disability, Thyroid cancer
RS1569460607 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569460610 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569460722 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569463775 OCRL Health Risk Pathogenic Lowe syndrome, Dent disease type 2
RS1569463838 NDUFA6 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 33
RS1569463953 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569464167 UPF3B Health Risk Pathogenic —
RS1569469138 DMD Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1569469298 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569469409 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569469484 COL4A5 Health Risk Likely pathogenic —
RS1569474795 FTSJ1 Health Risk Likely pathogenic —
RS1569476483 ARHGEF9 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 8
RS1569477854 PORCN Health Risk Likely pathogenic —
RS1569477871 XIAP Health Risk Pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS1569478551 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS1569479610 EBP Health Risk Likely pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS1569479885 EBP Health Risk Pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS1569479901 EBP Health Risk Pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS1569479913 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS1569479943 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS1569479953 CYBB Health Risk Likely pathogenic Granulomatous disease, chronic
RS1569479994 IL2RG Health Risk Likely pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS1569480016 EBP Health Risk Pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS1569480018 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS1569480031 CYBB Health Risk Pathogenic/Likely pathogenic Granulomatous disease, chronic
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