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rs72657689

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72657689(A;A)
Make rs72657689(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16169793
GeneABCC6
is asnp
is mentioned by
dbSNPrs72657689
ebirs72657689
HLIrs72657689
Exacrs72657689
Varsomers72657689
Maprs72657689
PheGenIrs72657689
hapmaprs72657689
1000 genomesrs72657689
hgdprs72657689
ensemblrs72657689
gopubmedrs72657689
geneviewrs72657689
scholarrs72657689
googlers72657689
pharmgkbrs72657689
gwascentralrs72657689
openSNPrs72657689
23andMers72657689
23andMe allrs72657689
SNP Nexus

SNPshotrs72657689
SNPdbers72657689
MSV3drs72657689
GWAS Ctlgrs72657689
Max Magnitude0
ClinVar
Risk rs72657689(A;A)
Alt rs72657689(A;A)
Reference rs72657689(G;G)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16263650C>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.