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
RS1602630650 CACNA1F Health Risk Pathogenic Congenital stationary night blindness, Congenital stationary night blindness 2A
RS1602632270 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS1602635261 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS1602635282 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS1602635656 PCDH19 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 9
RS1602635781 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1602636059 PCDH19 Health Risk Pathogenic —
RS1602636096 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS1602636466 PCDH19 Health Risk Pathogenic —
RS1602636591 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1602636688 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS1602636925 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS1602636952 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1602637340 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS1602637452 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1602637517 PCDH19 Health Risk Pathogenic —
RS1602637608 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS1602637696 PCDH19 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 9
RS1602637774 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1602638228 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS1602638456 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1602638463 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1602638594 PCDH19 Health Risk Pathogenic —
RS1602639528 CACNA1F Health Risk Pathogenic —
RS1602639607 CACNA1F Health Risk Pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS1602641426 CACNA1F Health Risk Pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS1602641906 POU3F4 Health Risk Likely pathogenic Ear malformation, Ear malformation
RS1602644716 CACNA1F Health Risk Pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS1602647939 CACNA1F Health Risk Pathogenic —
RS1602651770 COL18A1;SLC19A1 Health Risk Pathogenic Knobloch syndrome, Knobloch syndrome
RS1602653110 CACNA1F Health Risk Pathogenic Cone-rod dystrophy, Nonpapillary renal cell carcinoma
RS1602653742 CACNA1F Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1602658505 CACNA1F Health Risk Pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS1602667345 COL18A1 Health Risk Likely pathogenic Knobloch syndrome, Knobloch syndrome
RS1602669026 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602670769 EFNB1 Health Risk Pathogenic —
RS1602671282 EFNB1 Health Risk Likely pathogenic Craniofrontonasal syndrome, Craniofrontonasal syndrome
RS1602679037 FOXP3 Health Risk Pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS1602679681 FOXP3 Health Risk Likely pathogenic —
RS1602682433 FOXP3 Health Risk Conflicting classifications of pathogenicity Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS1602683532 AP1B1 Health Risk Pathogenic Autosomal recessive keratitis-ichthyosis-deafness syndrome, Autosomal recessive keratitis-ichthyosis-deafness syndrome
RS1602684221 FOXP3 Health Risk Likely pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS1602684496 FOXP3 Health Risk Pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS1602693008 FOXP3 Health Risk Conflicting classifications of pathogenicity Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS1602695527 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602695597 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602696519 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602708047 TRAPPC2 Health Risk Pathogenic Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda
RS1602717625 TRAPPC2 Health Risk Pathogenic Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda
RS1602717698 TRAPPC2 Health Risk Pathogenic Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda
RS1602717803 PHF6 Health Risk Pathogenic —
RS1602725543 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS1602725808 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS1602727611 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602728959 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602730254 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Thyroid cancer
RS1602730439 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS1602734459 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS1602738933 HUWE1 Health Risk Likely pathogenic Intellectual disability, X-linked syndromic
RS1602740899 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS1602740912 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS1602741150 HPRT1 Health Risk Pathogenic Lesch-Nyhan syndrome, Lesch-Nyhan syndrome
RS1602742620 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS1602742808 ZIC3 Health Risk Pathogenic Heterotaxy, visceral
RS1602742854 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS1602743059 ZIC3 Health Risk Likely pathogenic Heterotaxy, visceral
RS1602745376 HPRT1 Health Risk Pathogenic Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
RS1602745838 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS1602748255 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS1602749181 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS1602749299 AP1B1 Health Risk Pathogenic Autosomal recessive keratitis-ichthyosis-deafness syndrome, Autosomal recessive keratitis-ichthyosis-deafness syndrome
RS1602750400 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS1602750610 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS1602761438 AP1B1 Health Risk Pathogenic Autosomal recessive keratitis-ichthyosis-deafness syndrome, Autosomal recessive keratitis-ichthyosis-deafness syndrome
RS1602765633 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602765856 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602766499 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602766531 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602766655 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602766725 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS160278 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, Vitreoretinopathy
RS1602780580 OCRL Health Risk Pathogenic —
RS1602782082 OCRL Health Risk Likely pathogenic Dent disease type 2, Dent disease type 2
RS1602782195 OCRL Health Risk Pathogenic Lowe syndrome, Lowe syndrome
RS1602783564 OCRL Health Risk Likely pathogenic Lowe syndrome, Lowe syndrome
RS1602791255 OCRL Health Risk Pathogenic Lowe syndrome, Lowe syndrome
RS1602791884 FRMD7 Health Risk Pathogenic Nystagmus 1, congenital
RS1602799769 KDM6A Health Risk Likely pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS1602802472 OCRL Health Risk Pathogenic Lowe syndrome, Lowe syndrome
RS1602802640 OCRL Health Risk Likely pathogenic Lowe syndrome, Lowe syndrome
RS1602818783 OCRL Health Risk Pathogenic —
RS1602819835 OCRL Health Risk Pathogenic Lowe syndrome, Dent disease type 2
RS1602820970 OCRL Health Risk Likely pathogenic Lowe syndrome, Lowe syndrome
RS1602822117 KDM6A Health Risk Pathogenic —
RS1602826217 OFD1 Health Risk Likely pathogenic Orofaciodigital syndrome I, Orofaciodigital syndrome I
RS1602857000 DLG3 Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 90
RS1602868720 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS1602876401 ATRX Health Risk Likely pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS1602878106 MSN Health Risk Likely pathogenic Combined immunodeficiency due to moesin deficiency, Combined immunodeficiency due to moesin deficiency
RS1602880906 DLG3 Health Risk Pathogenic Intellectual disability, Intellectual disability
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