Have questions? Visit https://www.reddit.com/r/SNPedia

rs72653706

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72653706(C;T)
Make rs72653706(T;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position16163078
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653706
ebirs72653706
HLIrs72653706
Exacrs72653706
Varsomers72653706
Maprs72653706
PheGenIrs72653706
hapmaprs72653706
1000 genomesrs72653706
hgdprs72653706
ensemblrs72653706
gopubmedrs72653706
geneviewrs72653706
scholarrs72653706
googlers72653706
pharmgkbrs72653706
gwascentralrs72653706
openSNPrs72653706
23andMers72653706
23andMe allrs72653706
SNP Nexus

SNPshotrs72653706
SNPdbers72653706
MSV3drs72653706
GWAS Ctlgrs72653706
GMAF0.001377
Max Magnitude0
OMIM603234
Desc
Variant0001
Relatedalso


ClinVar
Risk rs72653706(T;T)
Alt rs72653706(T;T)
Reference rs72653706(C;C)
Significance Pathogenic
Disease Pseudoxanthoma elasticum Generalized arterial calcification of infancy 2
Variation info
Gene ABCC6
CLNDBN Pseudoxanthoma elasticum Generalized arterial calcification of infancy 2
Reversed 1
HGVS NC_000016.9:g.16256935G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006937.3, RCV000023272.3,



[PMID 10835643] Mutations in ABCC6 cause pseudoxanthoma elasticum.