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rs72653749

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72653749(C;T)
Make rs72653749(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16157722
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653749
ebirs72653749
HLIrs72653749
Exacrs72653749
Varsomers72653749
Maprs72653749
PheGenIrs72653749
hapmaprs72653749
1000 genomesrs72653749
hgdprs72653749
ensemblrs72653749
gopubmedrs72653749
geneviewrs72653749
scholarrs72653749
googlers72653749
pharmgkbrs72653749
gwascentralrs72653749
openSNPrs72653749
23andMers72653749
23andMe allrs72653749
SNP Nexus

SNPshotrs72653749
SNPdbers72653749
MSV3drs72653749
GWAS Ctlgrs72653749
Max Magnitude0
ClinVar
Risk rs72653749(T;T)
Alt rs72653749(T;T)
Reference rs72653749(C;C)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16251579G>A
CLNSRC
CLNACC



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