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rs72653764

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs72653764(A;G)
Make rs72653764(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16198167
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653764
dbSNP (classic)rs72653764
ClinGenrs72653764
ebirs72653764
HLIrs72653764
Exacrs72653764
Gnomadrs72653764
Varsomers72653764
LitVarrs72653764
Maprs72653764
PheGenIrs72653764
Biobankrs72653764
1000 genomesrs72653764
hgdprs72653764
ensemblrs72653764
geneviewrs72653764
scholarrs72653764
googlers72653764
pharmgkbrs72653764
gwascentralrs72653764
openSNPrs72653764
23andMers72653764
SNPshotrs72653764
SNPdbers72653764
MSV3drs72653764
GWAS Ctlgrs72653764
Max Magnitude0
ClinVar
Risk rs72653764(G;G)
Alt rs72653764(G;G)
Reference Rs72653764(A;A)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16292024T>C
CLNSRC
CLNACC



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