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rs869312707

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312707(C;T)
Make rs869312707(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position115963422
GeneMED13L
is asnp
is mentioned by
dbSNPrs869312707
ebirs869312707
HLIrs869312707
Exacrs869312707
Varsomers869312707
Maprs869312707
PheGenIrs869312707
hapmaprs869312707
1000 genomesrs869312707
hgdprs869312707
ensemblrs869312707
gopubmedrs869312707
geneviewrs869312707
scholarrs869312707
googlers869312707
pharmgkbrs869312707
gwascentralrs869312707
openSNPrs869312707
23andMers869312707
23andMe allrs869312707
SNP Nexus

SNPshotrs869312707
SNPdbers869312707
MSV3drs869312707
GWAS Ctlgrs869312707
Max Magnitude0
ClinVar
Risk rs869312707(T;T)
Alt rs869312707(T;T)
Reference rs869312707(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.116401227G>A
CLNSRC
CLNACC RCV000209918.1,