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rs72653784

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72653784(G;T)
Make rs72653784(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16182562
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653784
ebirs72653784
HLIrs72653784
Exacrs72653784
Varsomers72653784
Maprs72653784
PheGenIrs72653784
hapmaprs72653784
1000 genomesrs72653784
hgdprs72653784
ensemblrs72653784
gopubmedrs72653784
geneviewrs72653784
scholarrs72653784
googlers72653784
pharmgkbrs72653784
gwascentralrs72653784
openSNPrs72653784
23andMers72653784
23andMe allrs72653784
SNP Nexus

SNPshotrs72653784
SNPdbers72653784
MSV3drs72653784
GWAS Ctlgrs72653784
Max Magnitude0
ClinVar
Risk rs72653784(T;T)
Alt rs72653784(T;T)
Reference rs72653784(G;G)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16276419C>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.