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rs72653788

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72653788(C;T)
Make rs72653788(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16178935
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653788
dbSNP (classic)rs72653788
ClinGenrs72653788
ebirs72653788
HLIrs72653788
Exacrs72653788
Gnomadrs72653788
Varsomers72653788
LitVarrs72653788
Maprs72653788
PheGenIrs72653788
Biobankrs72653788
1000 genomesrs72653788
hgdprs72653788
ensemblrs72653788
geneviewrs72653788
scholarrs72653788
googlers72653788
pharmgkbrs72653788
gwascentralrs72653788
openSNPrs72653788
23andMers72653788
SNPshotrs72653788
SNPdbers72653788
MSV3drs72653788
GWAS Ctlgrs72653788
Max Magnitude0
ClinVar
Risk rs72653788(T;T)
Alt rs72653788(T;T)
Reference Rs72653788(C;C)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16272792G>A
CLNSRC
CLNACC



[PMID 15723264] New ABCC6 gene mutations in German pseudoxanthoma elasticum patients.