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rs398122880

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398122880(-;-)
Make rs398122880(-;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position118502805
GeneKMT2A
is asnp
is mentioned by
dbSNPrs398122880
ebirs398122880
HLIrs398122880
Exacrs398122880
Varsomers398122880
Maprs398122880
PheGenIrs398122880
hapmaprs398122880
1000 genomesrs398122880
hgdprs398122880
ensemblrs398122880
gopubmedrs398122880
geneviewrs398122880
scholarrs398122880
googlers398122880
pharmgkbrs398122880
gwascentralrs398122880
openSNPrs398122880
23andMers398122880
23andMe allrs398122880
SNP Nexus

SNPshotrs398122880
SNPdbers398122880
MSV3drs398122880
GWAS Ctlgrs398122880
Max Magnitude0
ClinVar
Risk rs398122880(;)
Alt rs398122880(;)
Reference rs398122880(T;T)
Significance Pathogenic
Disease Wiedemann-Steiner syndrome
Variation info
Gene KMT2A
CLNDBN Wiedemann-Steiner syndrome
Reversed 0
HGVS NC_000011.9:g.118373520delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000030723.28,