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rs8058696

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs8058696(C;C)
Make rs8058696(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16185012
GeneABCC6
is asnp
is mentioned by
dbSNPrs8058696
ebirs8058696
HLIrs8058696
Exacrs8058696
Varsomers8058696
Maprs8058696
PheGenIrs8058696
hapmaprs8058696
1000 genomesrs8058696
hgdprs8058696
ensemblrs8058696
gopubmedrs8058696
geneviewrs8058696
scholarrs8058696
googlers8058696
pharmgkbrs8058696
gwascentralrs8058696
openSNPrs8058696
23andMers8058696
23andMe allrs8058696
SNP Nexus

SNPshotrs8058696
SNPdbers8058696
MSV3drs8058696
GWAS Ctlgrs8058696
GMAF0.3577
Max Magnitude0
ClinVar
Risk rs8058696(C;C)
Alt rs8058696(C;C)
Reference rs8058696(G;G)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 0
HGVS NC_000016.9:g.16278869G>C
CLNSRC
CLNACC



[PMID 11439001] Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.