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rs527236048

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs527236048(C;T)
Make rs527236048(T;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position85958872
GeneCHM
is asnp
is mentioned by
dbSNPrs527236048
ebirs527236048
HLIrs527236048
Exacrs527236048
Varsomers527236048
Maprs527236048
PheGenIrs527236048
hapmaprs527236048
1000 genomesrs527236048
hgdprs527236048
ensemblrs527236048
gopubmedrs527236048
geneviewrs527236048
scholarrs527236048
googlers527236048
pharmgkbrs527236048
gwascentralrs527236048
openSNPrs527236048
23andMers527236048
23andMe allrs527236048
SNP Nexus

SNPshotrs527236048
SNPdbers527236048
MSV3drs527236048
GWAS Ctlgrs527236048
Max Magnitude0
ClinVar
Risk rs527236048(T;T)
Alt rs527236048(T;T)
Reference rs527236048(C;C)
Significance Pathogenic
Disease Choroideremia
Variation info
Gene CHM
CLNDBN Choroideremia
Reversed 1
HGVS NC_000023.10:g.85213877G>A
CLNSRC ClinVar
CLNACC RCV000132595.1,