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rs121918333

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918333(A;G)
Make rs121918333(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position115969097
GeneMED13L
is asnp
is mentioned by
dbSNPrs121918333
dbSNP (classic)rs121918333
ClinGenrs121918333
ebirs121918333
HLIrs121918333
Exacrs121918333
Gnomadrs121918333
Varsomers121918333
LitVarrs121918333
Maprs121918333
PheGenIrs121918333
Biobankrs121918333
1000 genomesrs121918333
hgdprs121918333
ensemblrs121918333
geneviewrs121918333
scholarrs121918333
googlers121918333
pharmgkbrs121918333
gwascentralrs121918333
openSNPrs121918333
23andMers121918333
SNPshotrs121918333
SNPdbers121918333
MSV3drs121918333
GWAS Ctlgrs121918333
Max Magnitude0
OMIM608771
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918333(G;G)
Alt rs121918333(G;G)
Reference Rs121918333(A;A)
Significance Pathogenic
Disease Transposition of the great arteries
Variation info
Gene MED13L
CLNDBN Transposition of the great arteries, dextro-looped 1
Reversed 1
HGVS NC_000012.11:g.116406902T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002189.3,