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rs387907275

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907275(C;T)
Make rs387907275(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position118503036
GeneMLL
is asnp
is mentioned by
dbSNPrs387907275
ebirs387907275
HLIrs387907275
Exacrs387907275
Varsomers387907275
Maprs387907275
PheGenIrs387907275
hapmaprs387907275
1000 genomesrs387907275
hgdprs387907275
ensemblrs387907275
gopubmedrs387907275
geneviewrs387907275
scholarrs387907275
googlers387907275
pharmgkbrs387907275
gwascentralrs387907275
openSNPrs387907275
23andMers387907275
23andMe allrs387907275
SNP Nexus

SNPshotrs387907275
SNPdbers387907275
MSV3drs387907275
GWAS Ctlgrs387907275
Max Magnitude0
ClinVar
Risk rs387907275(T;T)
Alt rs387907275(T;T)
Reference rs387907275(C;C)
Significance Pathogenic
Disease Wiedemann-Steiner syndrome
Variation info
Gene KMT2A
CLNDBN Wiedemann-Steiner syndrome
Reversed 0
HGVS NC_000011.9:g.118373751C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030724.23,