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rs132630267

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
Position85894201
GeneCHM
is asnp
is mentioned by
dbSNPrs132630267
ebirs132630267
HLIrs132630267
Exacrs132630267
Varsomers132630267
Maprs132630267
PheGenIrs132630267
hapmaprs132630267
1000 genomesrs132630267
hgdprs132630267
ensemblrs132630267
gopubmedrs132630267
geneviewrs132630267
scholarrs132630267
googlers132630267
pharmgkbrs132630267
gwascentralrs132630267
openSNPrs132630267
23andMers132630267
23andMe allrs132630267
SNP Nexus

SNPshotrs132630267
SNPdbers132630267
MSV3drs132630267
GWAS Ctlgrs132630267
Max Magnitude4
OMIM300390
Desc
Variant0009
Relatedalso
ClinVar
Risk rs132630267(A;A)
Alt rs132630267(A;A)
Reference rs132630267(C;C)
Significance Pathogenic
Disease Choroideremia
Variation info
Gene CHM
CLNDBN Choroideremia
Reversed 1
HGVS NC_000023.10:g.85149206G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011903.20,