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rs869025291

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs869025291(-;-)
Make rs869025291(-;T)
Make rs869025291(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position116022473
GeneMED13L
is asnp
is mentioned by
dbSNPrs869025291
ebirs869025291
HLIrs869025291
Exacrs869025291
Varsomers869025291
Maprs869025291
PheGenIrs869025291
hapmaprs869025291
1000 genomesrs869025291
hgdprs869025291
ensemblrs869025291
gopubmedrs869025291
geneviewrs869025291
scholarrs869025291
googlers869025291
pharmgkbrs869025291
gwascentralrs869025291
openSNPrs869025291
23andMers869025291
23andMe allrs869025291
SNP Nexus

SNPshotrs869025291
SNPdbers869025291
MSV3drs869025291
GWAS Ctlgrs869025291
Max Magnitude0
ClinVar
Risk rs869025291(T;T)
Alt rs869025291(T;T)
Reference rs869025291(;)
Significance Pathogenic
Disease Mental retardation and distinctive facial features with or without cardiac defects
Variation info
Gene MED13L
CLNDBN Mental retardation and distinctive facial features with or without cardiac defects
Reversed 1
HGVS NC_000012.11:g.116460279dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000207044.1,