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rs72653744

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72653744(C;T)
Make rs72653744(T;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position16163009
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653744
ebirs72653744
HLIrs72653744
Exacrs72653744
Varsomers72653744
Maprs72653744
PheGenIrs72653744
hapmaprs72653744
1000 genomesrs72653744
hgdprs72653744
ensemblrs72653744
gopubmedrs72653744
geneviewrs72653744
scholarrs72653744
googlers72653744
pharmgkbrs72653744
gwascentralrs72653744
openSNPrs72653744
23andMers72653744
23andMe allrs72653744
SNP Nexus

SNPshotrs72653744
SNPdbers72653744
MSV3drs72653744
GWAS Ctlgrs72653744
Max Magnitude0
OMIM603234
Desc
Variant0013
Relatedalso


ClinVar
Risk rs72653744(T;T)
Alt rs72653744(T;T)
Reference rs72653744(C;C)
Significance Pathogenic
Disease Pseudoxanthoma elasticum
Variation info
Gene ABCC6
CLNDBN Pseudoxanthoma elasticum
Reversed 1
HGVS NC_000016.9:g.16256866G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006950.5,



[PMID 11439001] Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.