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rs72653705

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72653705(C;T)
Make rs72653705(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16165841
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653705
dbSNP (classic)rs72653705
ClinGenrs72653705
ebirs72653705
HLIrs72653705
Exacrs72653705
Gnomadrs72653705
Varsomers72653705
LitVarrs72653705
Maprs72653705
PheGenIrs72653705
Biobankrs72653705
1000 genomesrs72653705
hgdprs72653705
ensemblrs72653705
geneviewrs72653705
scholarrs72653705
googlers72653705
pharmgkbrs72653705
gwascentralrs72653705
openSNPrs72653705
23andMers72653705
SNPshotrs72653705
SNPdbers72653705
MSV3drs72653705
GWAS Ctlgrs72653705
Max Magnitude0
ClinVar
Risk rs72653705(T;T)
Alt rs72653705(T;T)
Reference Rs72653705(C;C)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16259698G>A
CLNSRC
CLNACC



[PMID 11536079OA-icon.png] A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.