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rs72653748

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72653748(A;A)
Make rs72653748(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16159495
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653748
ebirs72653748
HLIrs72653748
Exacrs72653748
Varsomers72653748
Maprs72653748
PheGenIrs72653748
hapmaprs72653748
1000 genomesrs72653748
hgdprs72653748
ensemblrs72653748
gopubmedrs72653748
geneviewrs72653748
scholarrs72653748
googlers72653748
pharmgkbrs72653748
gwascentralrs72653748
openSNPrs72653748
23andMers72653748
23andMe allrs72653748
SNP Nexus

SNPshotrs72653748
SNPdbers72653748
MSV3drs72653748
GWAS Ctlgrs72653748
Max Magnitude0
ClinVar
Risk rs72653748(A;A)
Alt rs72653748(A;A)
Reference rs72653748(G;G)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16253352C>T
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.