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rs72653800

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72653800(G;T)
Make rs72653800(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16175934
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653800
ebirs72653800
HLIrs72653800
Exacrs72653800
Varsomers72653800
Maprs72653800
PheGenIrs72653800
hapmaprs72653800
1000 genomesrs72653800
hgdprs72653800
ensemblrs72653800
gopubmedrs72653800
geneviewrs72653800
scholarrs72653800
googlers72653800
pharmgkbrs72653800
gwascentralrs72653800
openSNPrs72653800
23andMers72653800
23andMe allrs72653800
SNP Nexus

SNPshotrs72653800
SNPdbers72653800
MSV3drs72653800
GWAS Ctlgrs72653800
Max Magnitude0
ClinVar
Risk rs72653800(T;T)
Alt rs72653800(T;T)
Reference rs72653800(G;G)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16269791C>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.