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
RS1602431663 CASK Health Risk Pathogenic —
RS1602439597 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1602439611 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1602439662 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1602442819 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1602442871 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1602446549 ARHGEF9 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 8
RS1602451773 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602454605 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602454639 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602454747 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602455302 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602455747 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602456175 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602456486 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS1602456821 COL18A1 Health Risk Pathogenic Knobloch syndrome, Knobloch syndrome
RS1602459252 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602459861 DMD Health Risk Pathogenic/Likely pathogenic —
RS1602460062 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602467530 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602467590 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602467787 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602468968 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602469251 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602469384 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602481623 TAF1 Health Risk Likely pathogenic Intellectual disability, X-linked
RS1602485677 MORC2 Health Risk Likely pathogenic —
RS1602485728 MORC2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2Z
RS1602485958 MORC2 Health Risk Likely pathogenic —
RS1602489684 TAF1 Health Risk Likely pathogenic; association Intellectual disability, X-linked
RS1602490113 TAF1 Health Risk Likely pathogenic Intellectual disability, X-linked
RS1602491118 ARHGEF9 Health Risk Pathogenic —
RS1602491207 HDAC8 Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1602496057 MORC2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2Z, Developmental delay
RS1602499631 MORC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z
RS1602499659 MORC2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z
RS1602506017 TAF1 Health Risk Likely pathogenic Intellectual disability, X-linked
RS1602510200 MORC2 Health Risk Pathogenic Developmental delay, impaired growth
RS1602510214 MORC2 Health Risk Likely pathogenic Developmental delay, impaired growth
RS1602510452 TUBGCP6 Health Risk Likely pathogenic Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1
RS1602511836 LOC101928335;MID2 Health Risk Pathogenic Intellectual disability, X-linked 101
RS1602520317 TAF1 Health Risk Pathogenic Intellectual disability, X-linked
RS1602532154 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype
RS1602534094 USP18 Health Risk Pathogenic/Likely pathogenic Pseudo-TORCH syndrome 2, Pseudo-TORCH syndrome 2
RS1602534666 LAMP2 Health Risk Likely pathogenic —
RS1602535807 LAMP2 Health Risk Likely pathogenic —
RS1602537159 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS1602537729 WDR45 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS1602537958 WDR45 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Neurodegeneration with brain iron accumulation 5
RS1602538023 WDR45 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS1602538148 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS1602538353 TAF1 Health Risk Likely pathogenic Intellectual disability, X-linked
RS1602538372 WDR45 Health Risk Pathogenic/Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS1602538379 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS1602538385 WDR45 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS1602539140 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS1602539322 WDR45 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS1602540060 WDR45 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS1602540152 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS1602540211 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Inborn genetic diseases
RS1602540235 WDR45 Health Risk Likely pathogenic Seizure, Autism
RS1602540295 WDR45 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS1602540331 WDR45 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS1602540581 WDR45 Health Risk Pathogenic Dystonic disorder, Basal ganglia calcification
RS1602540595 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS1602544454 XIAP Health Risk Conflicting classifications of pathogenicity X-linked lymphoproliferative disease due to XIAP deficiency, See cases
RS1602544507 XIAP Health Risk Pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS1602546782 XIAP Health Risk Pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS1602550687 CASK Health Risk Likely pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS1602556716 RBM10 Health Risk Likely pathogenic —
RS1602560972 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS1602562990 XIAP Health Risk Pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS1602564282 EDA Health Risk Likely pathogenic —
RS1602566823 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1602567594 CUL4B Health Risk Pathogenic CUL4B-related disorder, CUL4B-related disorder
RS1602572645 TAF1 Health Risk Likely pathogenic; association Intellectual disability, X-linked
RS1602573558 CUL4B Health Risk Pathogenic —
RS1602577238 CUL4B Health Risk Pathogenic X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type
RS1602577529 ARHGEF9 Health Risk Pathogenic Developmental and epileptic encephalopathy, 8
RS1602581162 GPC3 Health Risk Pathogenic Wilms tumor 1, Wilms tumor 1
RS1602582207 RBM10 Health Risk Pathogenic —
RS1602582334 RBM10 Health Risk Pathogenic TARP syndrome, Nonpapillary renal cell carcinoma
RS1602595101 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1602595136 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1602600445 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS1602600561 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1602612611 LAS1L Health Risk Likely pathogenic Wilson-Turner syndrome, Wilson-Turner syndrome
RS1602614385 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1602614410 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1602618255 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1602618398 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1602618442 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1602621312 CACNA1F Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness, Congenital stationary night blindness
RS1602622972 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1602624745 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1602624914 TAF1 Health Risk Pathogenic/Likely pathogenic Marfanoid habitus and intellectual disability, Intellectual disability
RS1602624950 TAF1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked
RS1602625000 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1602627593 CACNA1F Health Risk Likely pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS1602628429 CACNA1F Health Risk Likely pathogenic Congenital stationary night blindness, Congenital stationary night blindness
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