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rs132630266

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4 Choroideremia
(T;T) 4 risk of Choroideremia
ReferenceGRCh38 38.1/141
ChromosomeX
Position85957918
GeneCHM
is asnp
is mentioned by
dbSNPrs132630266
ebirs132630266
HLIrs132630266
Exacrs132630266
Varsomers132630266
Maprs132630266
PheGenIrs132630266
hapmaprs132630266
1000 genomesrs132630266
hgdprs132630266
ensemblrs132630266
gopubmedrs132630266
geneviewrs132630266
scholarrs132630266
googlers132630266
pharmgkbrs132630266
gwascentralrs132630266
openSNPrs132630266
23andMers132630266
23andMe allrs132630266
SNP Nexus

SNPshotrs132630266
SNPdbers132630266
MSV3drs132630266
GWAS Ctlgrs132630266
Max Magnitude4
OMIM300390
Desc
Variant0008
Relatedalso
ClinVar
Risk rs132630266(T;T)
Alt rs132630266(T;T)
Reference rs132630266(C;C)
Significance Pathogenic
Disease Choroideremia not provided
Variation info
Gene CHM
CLNDBN Choroideremia not provided
Reversed 1
HGVS NC_000023.10:g.85212923G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000011904.5, RCV000078687.4,