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rs72657693

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72657693(G;G)
Make rs72657693(G;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16165784
GeneABCC6
is asnp
is mentioned by
dbSNPrs72657693
ebirs72657693
HLIrs72657693
Exacrs72657693
Varsomers72657693
Maprs72657693
PheGenIrs72657693
hapmaprs72657693
1000 genomesrs72657693
hgdprs72657693
ensemblrs72657693
gopubmedrs72657693
geneviewrs72657693
scholarrs72657693
googlers72657693
pharmgkbrs72657693
gwascentralrs72657693
openSNPrs72657693
23andMers72657693
23andMe allrs72657693
SNP Nexus

SNPshotrs72657693
SNPdbers72657693
MSV3drs72657693
GWAS Ctlgrs72657693
Max Magnitude0
ClinVar
Risk rs72657693(G;G)
Alt rs72657693(G;G)
Reference rs72657693(T;T)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16259641A>C
CLNSRC
CLNACC



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