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rs72653770

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72653770(A;A)
Make rs72653770(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position16190308
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653770
ebirs72653770
HLIrs72653770
Exacrs72653770
Varsomers72653770
Maprs72653770
PheGenIrs72653770
hapmaprs72653770
1000 genomesrs72653770
hgdprs72653770
ensemblrs72653770
gopubmedrs72653770
geneviewrs72653770
scholarrs72653770
googlers72653770
pharmgkbrs72653770
gwascentralrs72653770
openSNPrs72653770
23andMers72653770
23andMe allrs72653770
SNP Nexus

SNPshotrs72653770
SNPdbers72653770
MSV3drs72653770
GWAS Ctlgrs72653770
Max Magnitude0
ClinVar
Risk rs72653770(A;A)
Alt rs72653770(A;A)
Reference rs72653770(C;C)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16284165G>T
CLNSRC
CLNACC


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