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rs72653793

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72653793(C;T)
Make rs72653793(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16177623
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653793
ebirs72653793
HLIrs72653793
Exacrs72653793
Varsomers72653793
Maprs72653793
PheGenIrs72653793
hapmaprs72653793
1000 genomesrs72653793
hgdprs72653793
ensemblrs72653793
gopubmedrs72653793
geneviewrs72653793
scholarrs72653793
googlers72653793
pharmgkbrs72653793
gwascentralrs72653793
openSNPrs72653793
23andMers72653793
23andMe allrs72653793
SNP Nexus

SNPshotrs72653793
SNPdbers72653793
MSV3drs72653793
GWAS Ctlgrs72653793
Max Magnitude0
ClinVar
Risk rs72653793(T;T)
Alt rs72653793(T;T)
Reference rs72653793(C;C)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16271480G>A
CLNSRC
CLNACC



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