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rs132630263

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CC;CC) 0 common in clinvar
(GA;GA) 4 risk of Choroideremia
Make rs132630263(CC;GA)
ReferenceGRCh38 38.1/141
ChromosomeX
Position85900700
GeneCHM
is asnp
is mentioned by
dbSNPrs132630263
ebirs132630263
HLIrs132630263
Exacrs132630263
Varsomers132630263
Maprs132630263
PheGenIrs132630263
hapmaprs132630263
1000 genomesrs132630263
hgdprs132630263
ensemblrs132630263
gopubmedrs132630263
geneviewrs132630263
scholarrs132630263
googlers132630263
pharmgkbrs132630263
gwascentralrs132630263
openSNPrs132630263
23andMers132630263
23andMe allrs132630263
SNP Nexus

SNPshotrs132630263
SNPdbers132630263
MSV3drs132630263
GWAS Ctlgrs132630263
Max Magnitude4
OMIM300390
Desc
Variant0002
Relatedalso
ClinVar
Risk rs132630263(GA;GA)
Alt rs132630263(GA;GA)
Reference rs132630263(CC;CC)
Significance Pathogenic
Disease Choroideremia
Variation info
Gene CHM
CLNDBN Choroideremia
Reversed 1
HGVS NC_000023.10:g.85155705_85155706delGGinsTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000011898.6,