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rs72657691

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72657691(C;C)
Make rs72657691(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16169750
GeneABCC6
is asnp
is mentioned by
dbSNPrs72657691
ebirs72657691
HLIrs72657691
Exacrs72657691
Varsomers72657691
Maprs72657691
PheGenIrs72657691
hapmaprs72657691
1000 genomesrs72657691
hgdprs72657691
ensemblrs72657691
gopubmedrs72657691
geneviewrs72657691
scholarrs72657691
googlers72657691
pharmgkbrs72657691
gwascentralrs72657691
openSNPrs72657691
23andMers72657691
23andMe allrs72657691
SNP Nexus

SNPshotrs72657691
SNPdbers72657691
MSV3drs72657691
GWAS Ctlgrs72657691
Max Magnitude0
ClinVar
Risk rs72657691(C;C)
Alt rs72657691(C;C)
Reference rs72657691(G;G)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16263607C>G
CLNSRC
CLNACC



[PMID 18253096OA-icon.png] ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.