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rs72547524

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs72547524(C;T)
Make rs72547524(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16150606
GeneABCC6
is asnp
is mentioned by
dbSNPrs72547524
ebirs72547524
HLIrs72547524
Exacrs72547524
Varsomers72547524
Maprs72547524
PheGenIrs72547524
hapmaprs72547524
1000 genomesrs72547524
hgdprs72547524
ensemblrs72547524
gopubmedrs72547524
geneviewrs72547524
scholarrs72547524
googlers72547524
pharmgkbrs72547524
gwascentralrs72547524
openSNPrs72547524
23andMers72547524
23andMe allrs72547524
SNP Nexus

SNPshotrs72547524
SNPdbers72547524
MSV3drs72547524
GWAS Ctlgrs72547524
Max Magnitude0
OMIM603234
Desc
Variant0018
Relatedalso


ClinVar
Risk rs72547524(A;A)
Alt rs72547524(A;A)
Reference rs72547524(G;G)
Significance Pathogenic
Disease Pseudoxanthoma elasticum
Variation info
Gene ABCC6
CLNDBN Pseudoxanthoma elasticum
Reversed 0
HGVS NC_000016.9:g.16244463G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006955.2,