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rs28940310

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs28940310(A;A)
Make rs28940310(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position115975287
GeneMED13L
is asnp
is mentioned by
dbSNPrs28940310
ebirs28940310
HLIrs28940310
Exacrs28940310
Varsomers28940310
Maprs28940310
PheGenIrs28940310
hapmaprs28940310
1000 genomesrs28940310
hgdprs28940310
ensemblrs28940310
gopubmedrs28940310
geneviewrs28940310
scholarrs28940310
googlers28940310
pharmgkbrs28940310
gwascentralrs28940310
openSNPrs28940310
23andMers28940310
23andMe allrs28940310
SNP Nexus

SNPshotrs28940310
SNPdbers28940310
MSV3drs28940310
GWAS Ctlgrs28940310
Max Magnitude0
OMIM608771
DescTRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED
Variant0002
Relatedalso


ClinVar
Risk rs28940310(A;A)
Alt rs28940310(A;A)
Reference rs28940310(G;G)
Significance Pathogenic
Disease Transposition of great arteries
Variation info
Gene MED13L
CLNDBN Transposition of great arteries
Reversed 1
HGVS NC_000012.11:g.116413092C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002188.3,