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rs72653773

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72653773(C;C)
Make rs72653773(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16190196
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653773
ebirs72653773
HLIrs72653773
Exacrs72653773
Varsomers72653773
Maprs72653773
PheGenIrs72653773
hapmaprs72653773
1000 genomesrs72653773
hgdprs72653773
ensemblrs72653773
gopubmedrs72653773
geneviewrs72653773
scholarrs72653773
googlers72653773
pharmgkbrs72653773
gwascentralrs72653773
openSNPrs72653773
23andMers72653773
23andMe allrs72653773
SNP Nexus

SNPshotrs72653773
SNPdbers72653773
MSV3drs72653773
GWAS Ctlgrs72653773
Max Magnitude0
ClinVar
Risk rs72653773(C;C)
Alt rs72653773(C;C)
Reference rs72653773(T;T)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16284053A>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.