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rs72650697

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72650697(G;T)
Make rs72650697(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16208798
GeneABCC6
is asnp
is mentioned by
dbSNPrs72650697
ebirs72650697
HLIrs72650697
Exacrs72650697
Varsomers72650697
Maprs72650697
PheGenIrs72650697
hapmaprs72650697
1000 genomesrs72650697
hgdprs72650697
ensemblrs72650697
gopubmedrs72650697
geneviewrs72650697
scholarrs72650697
googlers72650697
pharmgkbrs72650697
gwascentralrs72650697
openSNPrs72650697
23andMers72650697
23andMe allrs72650697
SNP Nexus

SNPshotrs72650697
SNPdbers72650697
MSV3drs72650697
GWAS Ctlgrs72650697
Max Magnitude0
ClinVar
Risk rs72650697(T;T)
Alt rs72650697(T;T)
Reference rs72650697(G;G)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16302655C>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.