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rs60975032

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs60975032(C;T)
Make rs60975032(T;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position16165722
GeneABCC6
is asnp
is mentioned by
dbSNPrs60975032
ebirs60975032
HLIrs60975032
Exacrs60975032
Varsomers60975032
Maprs60975032
PheGenIrs60975032
hapmaprs60975032
1000 genomesrs60975032
hgdprs60975032
ensemblrs60975032
gopubmedrs60975032
geneviewrs60975032
scholarrs60975032
googlers60975032
pharmgkbrs60975032
gwascentralrs60975032
openSNPrs60975032
23andMers60975032
23andMe allrs60975032
SNP Nexus

SNPshotrs60975032
SNPdbers60975032
MSV3drs60975032
GWAS Ctlgrs60975032
GMAF0.001377
Max Magnitude0
ClinVar
Risk rs60975032(A,T;A,T)
Alt rs60975032(A,T;A,T)
Reference rs60975032(C;C)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16259579G>T
CLNSRC
CLNACC



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