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rs72653743

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72653743(C;T)
Make rs72653743(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16163072
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653743
ebirs72653743
HLIrs72653743
Exacrs72653743
Varsomers72653743
Maprs72653743
PheGenIrs72653743
hapmaprs72653743
1000 genomesrs72653743
hgdprs72653743
ensemblrs72653743
gopubmedrs72653743
geneviewrs72653743
scholarrs72653743
googlers72653743
pharmgkbrs72653743
gwascentralrs72653743
openSNPrs72653743
23andMers72653743
23andMe allrs72653743
SNP Nexus

SNPshotrs72653743
SNPdbers72653743
MSV3drs72653743
GWAS Ctlgrs72653743
Max Magnitude0
ClinVar
Risk rs72653743(T;T)
Alt rs72653743(T;T)
Reference rs72653743(C;C)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16256929G>A
CLNSRC
CLNACC



[PMID 17617515OA-icon.png] Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.