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rs72664208

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72664208(A;A)
Make rs72664208(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16182799
GeneABCC6
is asnp
is mentioned by
dbSNPrs72664208
ebirs72664208
HLIrs72664208
Exacrs72664208
Varsomers72664208
Maprs72664208
PheGenIrs72664208
hapmaprs72664208
1000 genomesrs72664208
hgdprs72664208
ensemblrs72664208
gopubmedrs72664208
geneviewrs72664208
scholarrs72664208
googlers72664208
pharmgkbrs72664208
gwascentralrs72664208
openSNPrs72664208
23andMers72664208
23andMe allrs72664208
SNP Nexus

SNPshotrs72664208
SNPdbers72664208
MSV3drs72664208
GWAS Ctlgrs72664208
Max Magnitude0
ClinVar
Risk rs72664208(A;A)
Alt rs72664208(A;A)
Reference rs72664208(G;G)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16276656C>T
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.