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rs869025286

From SNPedia

Orientationminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs869025286(-;-)
Make rs869025286(-;AG)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position116008704
GeneMED13L
is asnp
is mentioned by
dbSNPrs869025286
ebirs869025286
HLIrs869025286
Exacrs869025286
Varsomers869025286
Maprs869025286
PheGenIrs869025286
hapmaprs869025286
1000 genomesrs869025286
hgdprs869025286
ensemblrs869025286
gopubmedrs869025286
geneviewrs869025286
scholarrs869025286
googlers869025286
pharmgkbrs869025286
gwascentralrs869025286
openSNPrs869025286
23andMers869025286
23andMe allrs869025286
SNP Nexus

SNPshotrs869025286
SNPdbers869025286
MSV3drs869025286
GWAS Ctlgrs869025286
Max Magnitude0
ClinVar
Risk rs869025286(;)
Alt rs869025286(;)
Reference rs869025286(AG;AG)
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.116446509_116446510delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000207251.1,