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rs72653797

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72653797(C;C)
Make rs72653797(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16177584
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653797
ebirs72653797
HLIrs72653797
Exacrs72653797
Varsomers72653797
Maprs72653797
PheGenIrs72653797
hapmaprs72653797
1000 genomesrs72653797
hgdprs72653797
ensemblrs72653797
gopubmedrs72653797
geneviewrs72653797
scholarrs72653797
googlers72653797
pharmgkbrs72653797
gwascentralrs72653797
openSNPrs72653797
23andMers72653797
23andMe allrs72653797
SNP Nexus

SNPshotrs72653797
SNPdbers72653797
MSV3drs72653797
GWAS Ctlgrs72653797
Max Magnitude0
ClinVar
Risk rs72653797(C;C)
Alt rs72653797(C;C)
Reference rs72653797(G;G)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16271441C>G
CLNSRC
CLNACC



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