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rs869025289

From SNPedia

Orientationminus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs869025289(-;-)
Make rs869025289(-;TC)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position115970711
GeneMED13L
is asnp
is mentioned by
dbSNPrs869025289
ebirs869025289
HLIrs869025289
Exacrs869025289
Varsomers869025289
Maprs869025289
PheGenIrs869025289
hapmaprs869025289
1000 genomesrs869025289
hgdprs869025289
ensemblrs869025289
gopubmedrs869025289
geneviewrs869025289
scholarrs869025289
googlers869025289
pharmgkbrs869025289
gwascentralrs869025289
openSNPrs869025289
23andMers869025289
23andMe allrs869025289
SNP Nexus

SNPshotrs869025289
SNPdbers869025289
MSV3drs869025289
GWAS Ctlgrs869025289
Max Magnitude0
ClinVar
Risk rs869025289(;)
Alt rs869025289(;)
Reference rs869025289(TC;TC)
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.116408516_116408517delGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000207139.1,