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rs72653758

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72653758(G;G)
Make rs72653758(G;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16202113
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653758
dbSNP (classic)rs72653758
ClinGenrs72653758
ebirs72653758
HLIrs72653758
Exacrs72653758
Gnomadrs72653758
Varsomers72653758
LitVarrs72653758
Maprs72653758
PheGenIrs72653758
Biobankrs72653758
1000 genomesrs72653758
hgdprs72653758
ensemblrs72653758
geneviewrs72653758
scholarrs72653758
googlers72653758
pharmgkbrs72653758
gwascentralrs72653758
openSNPrs72653758
23andMers72653758
SNPshotrs72653758
SNPdbers72653758
MSV3drs72653758
GWAS Ctlgrs72653758
Max Magnitude0
ClinVar
Risk rs72653758(G;G)
Alt rs72653758(G;G)
Reference Rs72653758(T;T)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16295970A>C
CLNSRC
CLNACC



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