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rs386833676

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 4 Choroideremia
(T;T) 4 risk of Choroideremia


Make rs386833676(-;-)
ReferenceGRCh38 38.1/141
ChromosomeX
Position85878962
GeneCHM
is asnp
is mentioned by
dbSNPrs386833676
ebirs386833676
HLIrs386833676
Exacrs386833676
Varsomers386833676
Maprs386833676
PheGenIrs386833676
hapmaprs386833676
1000 genomesrs386833676
hgdprs386833676
ensemblrs386833676
gopubmedrs386833676
geneviewrs386833676
scholarrs386833676
googlers386833676
pharmgkbrs386833676
gwascentralrs386833676
openSNPrs386833676
23andMers386833676
23andMe allrs386833676
SNP Nexus

SNPshotrs386833676
SNPdbers386833676
MSV3drs386833676
GWAS Ctlgrs386833676
Max Magnitude4
ClinVar
Risk rs386833676(T;T)
Alt rs386833676(T;T)
Reference rs386833676(;)
Significance Pathogenic
Disease Choroideremia
Variation info
Gene CHM
CLNDBN Choroideremia
Reversed 1
HGVS NC_000023.10:g.85133968dupA
CLNSRC ClinVar
CLNACC RCV000049636.2,


[PMID 1302003] Aberrant splicing of the CHM gene is a significant cause of choroideremia.