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rs72653768

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72653768(A;A)
Make rs72653768(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16190339
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653768
ebirs72653768
HLIrs72653768
Exacrs72653768
Varsomers72653768
Maprs72653768
PheGenIrs72653768
hapmaprs72653768
1000 genomesrs72653768
hgdprs72653768
ensemblrs72653768
gopubmedrs72653768
geneviewrs72653768
scholarrs72653768
googlers72653768
pharmgkbrs72653768
gwascentralrs72653768
openSNPrs72653768
23andMers72653768
23andMe allrs72653768
SNP Nexus

SNPshotrs72653768
SNPdbers72653768
MSV3drs72653768
GWAS Ctlgrs72653768
Max Magnitude0
ClinVar
Risk rs72653768(A;A)
Alt rs72653768(A;A)
Reference rs72653768(G;G)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16284196C>T
CLNSRC
CLNACC



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