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rs72653747

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72653747(G;G)
Make rs72653747(G;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16159500
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653747
ebirs72653747
HLIrs72653747
Exacrs72653747
Varsomers72653747
Maprs72653747
PheGenIrs72653747
hapmaprs72653747
1000 genomesrs72653747
hgdprs72653747
ensemblrs72653747
gopubmedrs72653747
geneviewrs72653747
scholarrs72653747
googlers72653747
pharmgkbrs72653747
gwascentralrs72653747
openSNPrs72653747
23andMers72653747
23andMe allrs72653747
SNP Nexus

SNPshotrs72653747
SNPdbers72653747
MSV3drs72653747
GWAS Ctlgrs72653747
Max Magnitude0
ClinVar
Risk rs72653747(G;G)
Alt rs72653747(G;G)
Reference rs72653747(T;T)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16253357A>C
CLNSRC
CLNACC



[PMID 18253096OA-icon.png] ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.