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rs72653790

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72653790(A;A)
Make rs72653790(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16178884
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653790
ebirs72653790
HLIrs72653790
Exacrs72653790
Varsomers72653790
Maprs72653790
PheGenIrs72653790
hapmaprs72653790
1000 genomesrs72653790
hgdprs72653790
ensemblrs72653790
gopubmedrs72653790
geneviewrs72653790
scholarrs72653790
googlers72653790
pharmgkbrs72653790
gwascentralrs72653790
openSNPrs72653790
23andMers72653790
23andMe allrs72653790
SNP Nexus

SNPshotrs72653790
SNPdbers72653790
MSV3drs72653790
GWAS Ctlgrs72653790
Max Magnitude0
ClinVar
Risk rs72653790(A;A)
Alt rs72653790(A;A)
Reference rs72653790(G;G)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16272741C>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.