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rs72653766

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72653766(G;G)
Make rs72653766(G;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16198041
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653766
ebirs72653766
HLIrs72653766
Exacrs72653766
Varsomers72653766
Maprs72653766
PheGenIrs72653766
hapmaprs72653766
1000 genomesrs72653766
hgdprs72653766
ensemblrs72653766
gopubmedrs72653766
geneviewrs72653766
scholarrs72653766
googlers72653766
pharmgkbrs72653766
gwascentralrs72653766
openSNPrs72653766
23andMers72653766
23andMe allrs72653766
SNP Nexus

SNPshotrs72653766
SNPdbers72653766
MSV3drs72653766
GWAS Ctlgrs72653766
Max Magnitude0
ClinVar
Risk rs72653766(G;G)
Alt rs72653766(G;G)
Reference Rs72653766(T;T)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16291898A>C
CLNSRC
CLNACC



[PMID 15459974] ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE).