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rs72650698

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72650698(C;T)
Make rs72650698(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16202090
GeneABCC6
is asnp
is mentioned by
dbSNPrs72650698
ebirs72650698
HLIrs72650698
Exacrs72650698
Varsomers72650698
Maprs72650698
PheGenIrs72650698
hapmaprs72650698
1000 genomesrs72650698
hgdprs72650698
ensemblrs72650698
gopubmedrs72650698
geneviewrs72650698
scholarrs72650698
googlers72650698
pharmgkbrs72650698
gwascentralrs72650698
openSNPrs72650698
23andMers72650698
23andMe allrs72650698
SNP Nexus

SNPshotrs72650698
SNPdbers72650698
MSV3drs72650698
GWAS Ctlgrs72650698
Max Magnitude0
ClinVar
Risk rs72650698(T;T)
Alt rs72650698(T;T)
Reference rs72650698(C;C)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16295947G>A
CLNSRC
CLNACC



[PMID 17617515OA-icon.png] Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.