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rs72653796

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72653796(C;T)
Make rs72653796(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16177610
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653796
ebirs72653796
HLIrs72653796
Exacrs72653796
Varsomers72653796
Maprs72653796
PheGenIrs72653796
hapmaprs72653796
1000 genomesrs72653796
hgdprs72653796
ensemblrs72653796
gopubmedrs72653796
geneviewrs72653796
scholarrs72653796
googlers72653796
pharmgkbrs72653796
gwascentralrs72653796
openSNPrs72653796
23andMers72653796
23andMe allrs72653796
SNP Nexus

SNPshotrs72653796
SNPdbers72653796
MSV3drs72653796
GWAS Ctlgrs72653796
Max Magnitude0
ClinVar
Risk rs72653796(T;T)
Alt rs72653796(T;T)
Reference rs72653796(C;C)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16271467G>A
CLNSRC
CLNACC



[PMID 16410789] Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity.