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rs72653765

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72653765(C;C)
Make rs72653765(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16198115
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653765
ebirs72653765
HLIrs72653765
Exacrs72653765
Varsomers72653765
Maprs72653765
PheGenIrs72653765
hapmaprs72653765
1000 genomesrs72653765
hgdprs72653765
ensemblrs72653765
gopubmedrs72653765
geneviewrs72653765
scholarrs72653765
googlers72653765
pharmgkbrs72653765
gwascentralrs72653765
openSNPrs72653765
23andMers72653765
23andMe allrs72653765
SNP Nexus

SNPshotrs72653765
SNPdbers72653765
MSV3drs72653765
GWAS Ctlgrs72653765
Max Magnitude0
ClinVar
Risk rs72653765(C;C)
Alt rs72653765(C;C)
Reference rs72653765(T;T)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16291972A>G
CLNSRC
CLNACC



[PMID 16835894] Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE).