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rs28940309

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0
Make rs28940309(A;G)
Make rs28940309(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position116019846
GeneMED13L
is asnp
is mentioned by
dbSNPrs28940309
ebirs28940309
HLIrs28940309
Exacrs28940309
Varsomers28940309
Maprs28940309
PheGenIrs28940309
hapmaprs28940309
1000 genomesrs28940309
hgdprs28940309
ensemblrs28940309
gopubmedrs28940309
geneviewrs28940309
scholarrs28940309
googlers28940309
pharmgkbrs28940309
gwascentralrs28940309
openSNPrs28940309
23andMers28940309
23andMe allrs28940309
SNP Nexus

SNPshotrs28940309
SNPdbers28940309
MSV3drs28940309
GWAS Ctlgrs28940309
Max Magnitude0
OMIM608771
DescTRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED
Variant0001
Relatedalso


ClinVar
Risk rs28940309(G;G)
Alt rs28940309(G;G)
Reference rs28940309(A;A)
Significance Pathogenic
Disease Transposition of great arteries
Variation info
Gene MED13L
CLNDBN Transposition of great arteries
Reversed 1
HGVS NC_000012.11:g.116457651T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002187.3,