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rs72653746

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72653746(C;T)
Make rs72653746(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16159508
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653746
ebirs72653746
HLIrs72653746
Exacrs72653746
Varsomers72653746
Maprs72653746
PheGenIrs72653746
hapmaprs72653746
1000 genomesrs72653746
hgdprs72653746
ensemblrs72653746
gopubmedrs72653746
geneviewrs72653746
scholarrs72653746
googlers72653746
pharmgkbrs72653746
gwascentralrs72653746
openSNPrs72653746
23andMers72653746
23andMe allrs72653746
SNP Nexus

SNPshotrs72653746
SNPdbers72653746
MSV3drs72653746
GWAS Ctlgrs72653746
Max Magnitude0
ClinVar
Risk rs72653746(T;T)
Alt rs72653746(T;T)
Reference rs72653746(C;C)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16253365G>A
CLNSRC
CLNACC



[PMID 11536079OA-icon.png] A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.