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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
ebirs58694313
HLIrs58694313
Exacrs58694313
Varsomers58694313
Maprs58694313
PheGenIrs58694313
hapmaprs58694313
1000 genomesrs58694313
hgdprs58694313
ensemblrs58694313
gopubmedrs58694313
geneviewrs58694313
scholarrs58694313
googlers58694313
pharmgkbrs58694313
gwascentralrs58694313
openSNPrs58694313
23andMers58694313
23andMe allrs58694313
SNP Nexus

SNPshotrs58694313
SNPdbers58694313
MSV3drs58694313
GWAS Ctlgrs58694313
GMAF0.02801
Max Magnitude0
ClinVar
Risk rs58694313(A;A)
Alt rs58694313(A;A)
Reference rs58694313(G;G)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16251531C>T
CLNSRC
CLNACC



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


GET Evidence
ABCC6-A1291T
aa_change Ala1291Thr
aa_change_short A1291T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0313255
summary