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rs72664228

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72664228(-;-)
Make rs72664228(-;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16182875
GeneABCC6
is asnp
is mentioned by
dbSNPrs72664228
ebirs72664228
HLIrs72664228
Exacrs72664228
Varsomers72664228
Maprs72664228
PheGenIrs72664228
hapmaprs72664228
1000 genomesrs72664228
hgdprs72664228
ensemblrs72664228
gopubmedrs72664228
geneviewrs72664228
scholarrs72664228
googlers72664228
pharmgkbrs72664228
gwascentralrs72664228
openSNPrs72664228
23andMers72664228
23andMe allrs72664228
SNP Nexus

SNPshotrs72664228
SNPdbers72664228
MSV3drs72664228
GWAS Ctlgrs72664228
Max Magnitude0
ClinVar
Risk rs72664228(;)
Alt rs72664228(;)
Reference rs72664228(G;G)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16276732delC
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.