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rs869312875

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs869312875(-;-)
Make rs869312875(-;G)
Make rs869312875(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position116237653
GeneMED13L
is asnp
is mentioned by
dbSNPrs869312875
ebirs869312875
HLIrs869312875
Exacrs869312875
Varsomers869312875
Maprs869312875
PheGenIrs869312875
hapmaprs869312875
1000 genomesrs869312875
hgdprs869312875
ensemblrs869312875
gopubmedrs869312875
geneviewrs869312875
scholarrs869312875
googlers869312875
pharmgkbrs869312875
gwascentralrs869312875
openSNPrs869312875
23andMers869312875
23andMe allrs869312875
SNP Nexus

SNPshotrs869312875
SNPdbers869312875
MSV3drs869312875
GWAS Ctlgrs869312875
Max Magnitude0
ClinVar
Risk rs869312875(G;G)
Alt rs869312875(G;G)
Reference rs869312875(;)
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.116675459dupC
CLNSRC
CLNACC RCV000209902.1,