Have questions? Visit https://www.reddit.com/r/SNPedia

rs132630265

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 4 Choroideremia
(T;T) 4 risk of Choroideremia
ReferenceGRCh38 38.1/141
ChromosomeX
Position85894227
GeneCHM
is asnp
is mentioned by
dbSNPrs132630265
ebirs132630265
HLIrs132630265
Exacrs132630265
Varsomers132630265
Maprs132630265
PheGenIrs132630265
hapmaprs132630265
1000 genomesrs132630265
hgdprs132630265
ensemblrs132630265
gopubmedrs132630265
geneviewrs132630265
scholarrs132630265
googlers132630265
pharmgkbrs132630265
gwascentralrs132630265
openSNPrs132630265
23andMers132630265
23andMe allrs132630265
SNP Nexus

SNPshotrs132630265
SNPdbers132630265
MSV3drs132630265
GWAS Ctlgrs132630265
Max Magnitude4
OMIM300390
Desc
Variant0004
Relatedalso
ClinVar
Risk rs132630265(T;T)
Alt rs132630265(T;T)
Reference rs132630265(G;G)
Significance Pathogenic
Disease Choroideremia
Variation info
Gene CHM
CLNDBN Choroideremia
Reversed 1
HGVS NC_000023.10:g.85149232C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011900.5,