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rs72653791

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72653791(C;T)
Make rs72653791(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16178871
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653791
dbSNP (classic)rs72653791
ClinGenrs72653791
ebirs72653791
HLIrs72653791
Exacrs72653791
Gnomadrs72653791
Varsomers72653791
LitVarrs72653791
Maprs72653791
PheGenIrs72653791
Biobankrs72653791
1000 genomesrs72653791
hgdprs72653791
ensemblrs72653791
geneviewrs72653791
scholarrs72653791
googlers72653791
pharmgkbrs72653791
gwascentralrs72653791
openSNPrs72653791
23andMers72653791
SNPshotrs72653791
SNPdbers72653791
MSV3drs72653791
GWAS Ctlgrs72653791
Max Magnitude0
ClinVar
Risk rs72653791(A;A) rs72653791(T;T)
Alt rs72653791(A;A) rs72653791(T;T)
Reference Rs72653791(C;C)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16272728G>A
CLNSRC
CLNACC



[PMID 15894595OA-icon.png] Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.