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rs1130426

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1130426(C;T)
Make rs1130426(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position51347036
GeneETFB
is asnp
is mentioned by
dbSNPrs1130426
ebirs1130426
HLIrs1130426
Exacrs1130426
Varsomers1130426
Maprs1130426
PheGenIrs1130426
hapmaprs1130426
1000 genomesrs1130426
hgdprs1130426
ensemblrs1130426
gopubmedrs1130426
geneviewrs1130426
scholarrs1130426
googlers1130426
pharmgkbrs1130426
gwascentralrs1130426
openSNPrs1130426
23andMers1130426
23andMe allrs1130426
SNP Nexus

SNPshotrs1130426
SNPdbers1130426
MSV3drs1130426
GWAS Ctlgrs1130426
Merged fromRs3177751
GMAF0.4633
Max Magnitude0
? (C;C) (C;T) (T;T) 28
GET Evidence
ETFB-T245M
aa_change Thr245Met
aa_change_short T245M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.536352
summary


ClinVar
Risk rs1130426(T;T)
Alt rs1130426(T;T)
Reference rs1130426(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene ETFB
CLNDBN not specified
Reversed 1
HGVS NC_000019.9:g.51850290G>A
CLNSRC ClinVar Emory University
CLNACC RCV000079961.4,