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rs72653703

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72653703(C;T)
Make rs72653703(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16177518
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653703
dbSNP (classic)rs72653703
ClinGenrs72653703
ebirs72653703
HLIrs72653703
Exacrs72653703
Gnomadrs72653703
Varsomers72653703
LitVarrs72653703
Maprs72653703
PheGenIrs72653703
Biobankrs72653703
1000 genomesrs72653703
hgdprs72653703
ensemblrs72653703
geneviewrs72653703
scholarrs72653703
googlers72653703
pharmgkbrs72653703
gwascentralrs72653703
openSNPrs72653703
23andMers72653703
SNPshotrs72653703
SNPdbers72653703
MSV3drs72653703
GWAS Ctlgrs72653703
Max Magnitude0
ClinVar
Risk rs72653703(T;T)
Alt rs72653703(T;T)
Reference Rs72653703(C;C)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16271375G>A
CLNSRC
CLNACC



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