Have questions? Visit https://www.reddit.com/r/SNPedia

rs869025290

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869025290(-;-)
Make rs869025290(-;C)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position115991189
GeneMED13L
is asnp
is mentioned by
dbSNPrs869025290
ebirs869025290
HLIrs869025290
Exacrs869025290
Varsomers869025290
Maprs869025290
PheGenIrs869025290
hapmaprs869025290
1000 genomesrs869025290
hgdprs869025290
ensemblrs869025290
gopubmedrs869025290
geneviewrs869025290
scholarrs869025290
googlers869025290
pharmgkbrs869025290
gwascentralrs869025290
openSNPrs869025290
23andMers869025290
23andMe allrs869025290
SNP Nexus

SNPshotrs869025290
SNPdbers869025290
MSV3drs869025290
GWAS Ctlgrs869025290
Max Magnitude0
ClinVar
Risk rs869025290(;)
Alt rs869025290(;)
Reference rs869025290(C;C)
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.116428994delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000207262.1,