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rs72653704

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72653704(C;G)
Make rs72653704(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16169827
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653704
ebirs72653704
HLIrs72653704
Exacrs72653704
Varsomers72653704
Maprs72653704
PheGenIrs72653704
hapmaprs72653704
1000 genomesrs72653704
hgdprs72653704
ensemblrs72653704
gopubmedrs72653704
geneviewrs72653704
scholarrs72653704
googlers72653704
pharmgkbrs72653704
gwascentralrs72653704
openSNPrs72653704
23andMers72653704
23andMe allrs72653704
SNP Nexus

SNPshotrs72653704
SNPdbers72653704
MSV3drs72653704
GWAS Ctlgrs72653704
Max Magnitude0
ClinVar
Risk rs72653704(G;G)
Alt rs72653704(G;G)
Reference rs72653704(C;C)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16263684G>C
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.