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rs869025288

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869025288(G;T)
Make rs869025288(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position116022602
GeneMED13L
is asnp
is mentioned by
dbSNPrs869025288
ebirs869025288
HLIrs869025288
Exacrs869025288
Varsomers869025288
Maprs869025288
PheGenIrs869025288
hapmaprs869025288
1000 genomesrs869025288
hgdprs869025288
ensemblrs869025288
gopubmedrs869025288
geneviewrs869025288
scholarrs869025288
googlers869025288
pharmgkbrs869025288
gwascentralrs869025288
openSNPrs869025288
23andMers869025288
23andMe allrs869025288
SNP Nexus

SNPshotrs869025288
SNPdbers869025288
MSV3drs869025288
GWAS Ctlgrs869025288
Max Magnitude0
ClinVar
Risk rs869025288(T;T)
Alt rs869025288(T;T)
Reference rs869025288(G;G)
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.116460407C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000207115.1,