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rs72653783

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs72653783(A;C)
Make rs72653783(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position16182566
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653783
ebirs72653783
HLIrs72653783
Exacrs72653783
Varsomers72653783
Maprs72653783
PheGenIrs72653783
hapmaprs72653783
1000 genomesrs72653783
hgdprs72653783
ensemblrs72653783
gopubmedrs72653783
geneviewrs72653783
scholarrs72653783
googlers72653783
pharmgkbrs72653783
gwascentralrs72653783
openSNPrs72653783
23andMers72653783
23andMe allrs72653783
SNP Nexus

SNPshotrs72653783
SNPdbers72653783
MSV3drs72653783
GWAS Ctlgrs72653783
Max Magnitude0
ClinVar
Risk rs72653783(C;C)
Alt rs72653783(C;C)
Reference rs72653783(A;A)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16276423T>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.