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rs869025287

From SNPedia

Orientationminus
Geno Mag Summary
(GGCATATT;GGCATATT) 0 common in clinvar
Make rs869025287(-;-)
Make rs869025287(-;GGCATATT)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position115969040
GeneMED13L
is asnp
is mentioned by
dbSNPrs869025287
ebirs869025287
HLIrs869025287
Exacrs869025287
Varsomers869025287
Maprs869025287
PheGenIrs869025287
hapmaprs869025287
1000 genomesrs869025287
hgdprs869025287
ensemblrs869025287
gopubmedrs869025287
geneviewrs869025287
scholarrs869025287
googlers869025287
pharmgkbrs869025287
gwascentralrs869025287
openSNPrs869025287
23andMers869025287
23andMe allrs869025287
SNP Nexus

SNPshotrs869025287
SNPdbers869025287
MSV3drs869025287
GWAS Ctlgrs869025287
Max Magnitude0
ClinVar
Risk rs869025287(;)
Alt rs869025287(;)
Reference rs869025287(GGCATATT;GGCATATT)
Significance Pathogenic
Disease Mental retardation and distinctive facial features with or without cardiac defects Intellectual disability
Variation info
Gene MED13L
CLNDBN Mental retardation and distinctive facial features with or without cardiac defects Intellectual disability
Reversed 1
HGVS NC_000012.11:g.116406845_116406852delAATATGCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000207025.1, RCV000224537.1,