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rs72653750

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72653750(A;A)
Make rs72653750(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16154943
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653750
ebirs72653750
HLIrs72653750
Exacrs72653750
Varsomers72653750
Maprs72653750
PheGenIrs72653750
hapmaprs72653750
1000 genomesrs72653750
hgdprs72653750
ensemblrs72653750
gopubmedrs72653750
geneviewrs72653750
scholarrs72653750
googlers72653750
pharmgkbrs72653750
gwascentralrs72653750
openSNPrs72653750
23andMers72653750
23andMe allrs72653750
SNP Nexus

SNPshotrs72653750
SNPdbers72653750
MSV3drs72653750
GWAS Ctlgrs72653750
Max Magnitude0
ClinVar
Risk rs72653750(A;A)
Alt rs72653750(A;A)
Reference rs72653750(G;G)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16248800C>T
CLNSRC
CLNACC



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