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rs397514603

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514603(A;G)
Make rs397514603(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position85879054
GeneCHM
is asnp
is mentioned by
dbSNPrs397514603
ebirs397514603
HLIrs397514603
Exacrs397514603
Varsomers397514603
Maprs397514603
PheGenIrs397514603
hapmaprs397514603
1000 genomesrs397514603
hgdprs397514603
ensemblrs397514603
gopubmedrs397514603
geneviewrs397514603
scholarrs397514603
googlers397514603
pharmgkbrs397514603
gwascentralrs397514603
openSNPrs397514603
23andMers397514603
23andMe allrs397514603
SNP Nexus

SNPshotrs397514603
SNPdbers397514603
MSV3drs397514603
GWAS Ctlgrs397514603
Max Magnitude0
ClinVar
Risk rs397514603(G;G)
Alt rs397514603(G;G)
Reference rs397514603(A;A)
Significance Pathogenic
Disease Choroideremia
Variation info
Gene CHM
CLNDBN Choroideremia
Reversed 1
HGVS NC_000023.10:g.85134059T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000033030.2,