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rs72653761

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72653761(C;T)
Make rs72653761(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16202033
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653761
ebirs72653761
HLIrs72653761
Exacrs72653761
Varsomers72653761
Maprs72653761
PheGenIrs72653761
hapmaprs72653761
1000 genomesrs72653761
hgdprs72653761
ensemblrs72653761
gopubmedrs72653761
geneviewrs72653761
scholarrs72653761
googlers72653761
pharmgkbrs72653761
gwascentralrs72653761
openSNPrs72653761
23andMers72653761
23andMe allrs72653761
SNP Nexus

SNPshotrs72653761
SNPdbers72653761
MSV3drs72653761
GWAS Ctlgrs72653761
Max Magnitude0
ClinVar
Risk rs72653761(T;T)
Alt rs72653761(T;T)
Reference rs72653761(C;C)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16295890G>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.