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rs72653780

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72653780(G;T)
Make rs72653780(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16182887
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653780
ebirs72653780
HLIrs72653780
Exacrs72653780
Varsomers72653780
Maprs72653780
PheGenIrs72653780
hapmaprs72653780
1000 genomesrs72653780
hgdprs72653780
ensemblrs72653780
gopubmedrs72653780
geneviewrs72653780
scholarrs72653780
googlers72653780
pharmgkbrs72653780
gwascentralrs72653780
openSNPrs72653780
23andMers72653780
23andMe allrs72653780
SNP Nexus

SNPshotrs72653780
SNPdbers72653780
MSV3drs72653780
GWAS Ctlgrs72653780
Max Magnitude0
ClinVar
Risk rs72653780(T;T)
Alt rs72653780(T;T)
Reference rs72653780(G;G)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16276744C>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.