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rs72653785

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72653785(C;C)
Make rs72653785(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16182482
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653785
ebirs72653785
HLIrs72653785
Exacrs72653785
Varsomers72653785
Maprs72653785
PheGenIrs72653785
hapmaprs72653785
1000 genomesrs72653785
hgdprs72653785
ensemblrs72653785
gopubmedrs72653785
geneviewrs72653785
scholarrs72653785
googlers72653785
pharmgkbrs72653785
gwascentralrs72653785
openSNPrs72653785
23andMers72653785
23andMe allrs72653785
SNP Nexus

SNPshotrs72653785
SNPdbers72653785
MSV3drs72653785
GWAS Ctlgrs72653785
Max Magnitude0
ClinVar
Risk rs72653785(C;C)
Alt rs72653785(C;C)
Reference rs72653785(T;T)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16276339A>G
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.