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rs132630264

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 4 risk of Choroideremia
(A;C) 4 Choroideremia
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
ChromosomeX
Position85894214
GeneCHM
is asnp
is mentioned by
dbSNPrs132630264
ebirs132630264
HLIrs132630264
Exacrs132630264
Varsomers132630264
Maprs132630264
PheGenIrs132630264
hapmaprs132630264
1000 genomesrs132630264
hgdprs132630264
ensemblrs132630264
gopubmedrs132630264
geneviewrs132630264
scholarrs132630264
googlers132630264
pharmgkbrs132630264
gwascentralrs132630264
openSNPrs132630264
23andMers132630264
23andMe allrs132630264
SNP Nexus

SNPshotrs132630264
SNPdbers132630264
MSV3drs132630264
GWAS Ctlgrs132630264
Max Magnitude4
OMIM300390
Desc
Variant0003
Relatedalso
ClinVar
Risk rs132630264(A;A)
Alt rs132630264(A;A)
Reference rs132630264(C;C)
Significance Pathogenic
Disease Choroideremia
Variation info
Gene CHM
CLNDBN Choroideremia
Reversed 1
HGVS NC_000023.10:g.85149219G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011899.6,