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rs72657695

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72657695(G;G)
Make rs72657695(G;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16165741
GeneABCC6
is asnp
is mentioned by
dbSNPrs72657695
ebirs72657695
HLIrs72657695
Exacrs72657695
Varsomers72657695
Maprs72657695
PheGenIrs72657695
hapmaprs72657695
1000 genomesrs72657695
hgdprs72657695
ensemblrs72657695
gopubmedrs72657695
geneviewrs72657695
scholarrs72657695
googlers72657695
pharmgkbrs72657695
gwascentralrs72657695
openSNPrs72657695
23andMers72657695
23andMe allrs72657695
SNP Nexus

SNPshotrs72657695
SNPdbers72657695
MSV3drs72657695
GWAS Ctlgrs72657695
Max Magnitude0
ClinVar
Risk rs72657695(G;G)
Alt rs72657695(G;G)
Reference rs72657695(T;T)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16259598A>C
CLNSRC
CLNACC



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