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rs58695352

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs58695352(C;T)
Make rs58695352(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16154755
GeneABCC6
is asnp
is mentioned by
dbSNPrs58695352
ebirs58695352
HLIrs58695352
Exacrs58695352
Varsomers58695352
Maprs58695352
PheGenIrs58695352
hapmaprs58695352
1000 genomesrs58695352
hgdprs58695352
ensemblrs58695352
gopubmedrs58695352
geneviewrs58695352
scholarrs58695352
googlers58695352
pharmgkbrs58695352
gwascentralrs58695352
openSNPrs58695352
23andMers58695352
23andMe allrs58695352
SNP Nexus

SNPshotrs58695352
SNPdbers58695352
MSV3drs58695352
GWAS Ctlgrs58695352
Max Magnitude0
ClinVar
Risk rs58695352(T;T)
Alt rs58695352(T;T)
Reference rs58695352(C;C)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 0
HGVS NC_000016.9:g.16248612C>T
CLNSRC
CLNACC



[PMID 11536079OA-icon.png] A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.