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rs72653775

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72653775(C;C)
Make rs72653775(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16188925
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653775
ebirs72653775
HLIrs72653775
Exacrs72653775
Varsomers72653775
Maprs72653775
PheGenIrs72653775
hapmaprs72653775
1000 genomesrs72653775
hgdprs72653775
ensemblrs72653775
gopubmedrs72653775
geneviewrs72653775
scholarrs72653775
googlers72653775
pharmgkbrs72653775
gwascentralrs72653775
openSNPrs72653775
23andMers72653775
23andMe allrs72653775
SNP Nexus

SNPshotrs72653775
SNPdbers72653775
MSV3drs72653775
GWAS Ctlgrs72653775
Max Magnitude0
ClinVar
Risk rs72653775(C;C)
Alt rs72653775(C;C)
Reference rs72653775(T;T)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16282782A>G
CLNSRC
CLNACC



[PMID 18253096OA-icon.png] ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.