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rs72650700

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72650700(C;T)
Make rs72650700(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16190247
GeneABCC6
is asnp
is mentioned by
dbSNPrs72650700
ebirs72650700
HLIrs72650700
Exacrs72650700
Varsomers72650700
Maprs72650700
PheGenIrs72650700
hapmaprs72650700
1000 genomesrs72650700
hgdprs72650700
ensemblrs72650700
gopubmedrs72650700
geneviewrs72650700
scholarrs72650700
googlers72650700
pharmgkbrs72650700
gwascentralrs72650700
openSNPrs72650700
23andMers72650700
23andMe allrs72650700
SNP Nexus

SNPshotrs72650700
SNPdbers72650700
MSV3drs72650700
GWAS Ctlgrs72650700
Max Magnitude0
ClinVar
Risk rs72650700(T;T)
Alt rs72650700(T;T)
Reference rs72650700(C;C)
Significance Pathogenic
Disease Generalized arterial calcification of infancy 2 Pseudoxanthoma elasticum Pseudoxanthoma elasticum
Variation info
Gene ABCC6
CLNDBN Generalized arterial calcification of infancy 2 Pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste
Reversed 1
HGVS NC_000016.9:g.16284104G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023279.3, RCV000023280.3, RCV000191057.1,



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