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rs398122879

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398122879(-;-)
Make rs398122879(-;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position118504159
GeneKMT2A
is asnp
is mentioned by
dbSNPrs398122879
ebirs398122879
HLIrs398122879
Exacrs398122879
Varsomers398122879
Maprs398122879
PheGenIrs398122879
hapmaprs398122879
1000 genomesrs398122879
hgdprs398122879
ensemblrs398122879
gopubmedrs398122879
geneviewrs398122879
scholarrs398122879
googlers398122879
pharmgkbrs398122879
gwascentralrs398122879
openSNPrs398122879
23andMers398122879
23andMe allrs398122879
SNP Nexus

SNPshotrs398122879
SNPdbers398122879
MSV3drs398122879
GWAS Ctlgrs398122879
Max Magnitude0
ClinVar
Risk rs398122879(;)
Alt rs398122879(;)
Reference rs398122879(T;T)
Significance Pathogenic
Disease Wiedemann-Steiner syndrome
Variation info
Gene KMT2A
CLNDBN Wiedemann-Steiner syndrome
Reversed 0
HGVS NC_000011.9:g.118374874delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000030722.28,