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rs58694313

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs58694313(A;A)
Make rs58694313(A;G)
ReferenceGRCh38 38.1/142
Chromosome16
Position16157674
GeneABCC6
is asnp
is mentioned by
dbSNPrs58694313
dbSNP (classic)rs58694313
ClinGenrs58694313
ebirs58694313
HLIrs58694313
Exacrs58694313
Gnomadrs58694313
Varsomers58694313
LitVarrs58694313
Maprs58694313
PheGenIrs58694313
Biobankrs58694313
1000 genomesrs58694313
hgdprs58694313
ensemblrs58694313
geneviewrs58694313
scholarrs58694313
googlers58694313
pharmgkbrs58694313
gwascentralrs58694313
openSNPrs58694313
23andMers58694313
23andMe allrs58694313
SNPshotrs58694313
SNPdbers58694313
MSV3drs58694313
GWAS Ctlgrs58694313
GMAF0.02801
Max Magnitude0
ClinVar
Risk rs58694313(A;A)
Alt rs58694313(A;A)
Reference Rs58694313(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene ABCC6
CLNDBN not specified
Reversed 1
HGVS NC_000016.9:g.16251531C>T
CLNSRC
CLNACC RCV000420584.1,



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