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rs72653757

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72653757(C;T)
Make rs72653757(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16208768
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653757
ebirs72653757
HLIrs72653757
Exacrs72653757
Varsomers72653757
Maprs72653757
PheGenIrs72653757
hapmaprs72653757
1000 genomesrs72653757
hgdprs72653757
ensemblrs72653757
gopubmedrs72653757
geneviewrs72653757
scholarrs72653757
googlers72653757
pharmgkbrs72653757
gwascentralrs72653757
openSNPrs72653757
23andMers72653757
23andMe allrs72653757
SNP Nexus

SNPshotrs72653757
SNPdbers72653757
MSV3drs72653757
GWAS Ctlgrs72653757
Max Magnitude0
ClinVar
Risk rs72653757(T;T)
Alt rs72653757(T;T)
Reference rs72653757(C;C)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16302625G>A
CLNSRC
CLNACC



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