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rs72653774

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72653774(C;C)
Make rs72653774(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16188958
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653774
dbSNP (classic)rs72653774
ClinGenrs72653774
ebirs72653774
HLIrs72653774
Exacrs72653774
Gnomadrs72653774
Varsomers72653774
LitVarrs72653774
Maprs72653774
PheGenIrs72653774
Biobankrs72653774
1000 genomesrs72653774
hgdprs72653774
ensemblrs72653774
geneviewrs72653774
scholarrs72653774
googlers72653774
pharmgkbrs72653774
gwascentralrs72653774
openSNPrs72653774
23andMers72653774
SNPshotrs72653774
SNPdbers72653774
MSV3drs72653774
GWAS Ctlgrs72653774
Max Magnitude0
ClinVar
Risk rs72653774(C;C)
Alt rs72653774(C;C)
Reference Rs72653774(T;T)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16282815A>G
CLNSRC
CLNACC



[PMID 16086317] Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.