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
RS1557092782 L1CAM Health Risk Conflicting classifications of pathogenicity X-linked hydrocephalus syndrome, X-linked hydrocephalus syndrome
RS1557092994 L1CAM Health Risk Pathogenic —
RS1557094409 L1CAM Health Risk Pathogenic —
RS1557096992 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS1557099144 PHF8 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1557100304 AVPR2 Health Risk Pathogenic Diabetes insipidus, nephrogenic
RS1557100572 AVPR2 Health Risk Pathogenic —
RS1557100580 AVPR2 Health Risk Pathogenic —
RS1557100594 AVPR2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Diabetes insipidus
RS1557100701 AVPR2 Health Risk Pathogenic Diabetes insipidus, nephrogenic
RS1557100917 AVPR2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1557101975 PHF8 Health Risk Pathogenic —
RS1557103139 SYP Health Risk Conflicting classifications of pathogenicity —
RS1557103814 SYP Health Risk Likely pathogenic Intellectual disability, X-linked 96
RS1557104968 CACNA1F Health Risk Likely pathogenic —
RS1557105474 CACNA1F Health Risk Pathogenic/Likely pathogenic —
RS1557106008 CACNA1F Health Risk Likely pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS1557106482 ATRX Health Risk Pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS1557106484 ATRX Health Risk Likely pathogenic 7 conditions, 7 conditions
RS1557106489 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome
RS1557106557 CACNA1F Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Progressive cone dystrophy (without rod involvement)
RS1557107192 CACNA1F Health Risk Likely pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS1557107264 NAA10 Health Risk Likely pathogenic Ogden syndrome, Ogden syndrome
RS1557107417 CACNA1F Health Risk Likely pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS1557107462 NAA10 Health Risk Likely pathogenic Ogden syndrome, Ogden syndrome
RS1557107528 NAA10 Health Risk Pathogenic Ogden syndrome, Ogden syndrome
RS1557107543 NAA10 Health Risk Pathogenic/Likely pathogenic Ogden syndrome, Inborn genetic diseases
RS1557107890 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS1557107942 NAA10 Health Risk Pathogenic/Likely pathogenic Ogden syndrome, Ogden syndrome
RS1557107957 NAA10 Health Risk Likely pathogenic —
RS1557107966 CACNA1F Health Risk Pathogenic —
RS1557108147 CACNA1F Health Risk Likely pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS1557109796 CACNA1F Health Risk Likely pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS1557109912 CACNA1F Health Risk Likely pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS1557110006 CACNA1F Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1557110046 CACNA1F Health Risk Likely pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS1557110192 CACNA1F Health Risk Pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS1557110385 PHF8 Health Risk Pathogenic —
RS1557110499 CACNA1F Health Risk Pathogenic/Likely pathogenic Congenital stationary night blindness, Cone-rod dystrophy
RS1557110988 CACNA1F Health Risk Pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS1557111077 CACNA1F Health Risk Pathogenic —
RS1557115532 FOXP3 Health Risk Pathogenic/Likely pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome, FOXP3-related disorder
RS1557115716 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS1557115786 FOXP3 Health Risk Pathogenic/Likely risk allele Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS1557116163 FOXP3 Health Risk Pathogenic/Likely pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS1557118764 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS1557119999 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS1557124033 ATRX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome
RS1557134378 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS1557134481 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1557134621 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1557134716 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS1557134720 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1557134770 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1557134779 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS1557134792 MECP2 Health Risk Likely pathogenic —
RS1557134923 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS1557134999 MECP2 Health Risk Likely pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS1557135004 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS1557135016 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS1557135039 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1557135076 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1557135091 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS1557135110 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1557135125 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS1557135128 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1557135137 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS1557135140 MECP2 Health Risk Pathogenic —
RS1557135197 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS1557135208 MECP2 Health Risk Likely pathogenic —
RS1557135212 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1557135213 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS1557135218 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1557135225 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1557135251 MECP2 Health Risk Pathogenic/Likely pathogenic Atypical Rett syndrome, Angelman syndrome
RS1557135268 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS1557135285 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS1557135295 MECP2 Health Risk Pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS1557135299 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS1557135300 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1557135314 MECP2 Health Risk Pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS1557135315 MECP2 Health Risk Pathogenic Rett syndrome, Syndromic X-linked intellectual disability Lubs type
RS1557135338 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS1557135346 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS1557135350 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1557135400 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1557135418 MECP2 Health Risk Pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS1557135423 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS1557135426 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS1557135447 MECP2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS1557135461 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1557135499 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS1557135516 MECP2 Health Risk Pathogenic —
RS1557135541 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS1557135547 MECP2 Health Risk Likely pathogenic —
RS1557135571 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS1557135575 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1557135596 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1557135603 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS1557135622 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
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