Have questions? Visit https://www.reddit.com/r/SNPedia

rs398122881

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs398122881(-;T)
Make rs398122881(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position118490152
GeneKMT2A
is asnp
is mentioned by
dbSNPrs398122881
dbSNP (classic)rs398122881
ClinGenrs398122881
ebirs398122881
HLIrs398122881
Exacrs398122881
Gnomadrs398122881
Varsomers398122881
LitVarrs398122881
Maprs398122881
PheGenIrs398122881
Biobankrs398122881
1000 genomesrs398122881
hgdprs398122881
ensemblrs398122881
geneviewrs398122881
scholarrs398122881
googlers398122881
pharmgkbrs398122881
gwascentralrs398122881
openSNPrs398122881
23andMers398122881
SNPshotrs398122881
SNPdbers398122881
MSV3drs398122881
GWAS Ctlgrs398122881
Max Magnitude0
ClinVar
Risk rs398122881(T;T)
Alt rs398122881(T;T)
Reference Rs398122881(-;-)
Significance Pathogenic
Disease Wiedemann-Steiner syndrome
Variation info
Gene KMT2A
CLNDBN Wiedemann-Steiner syndrome
Reversed 0
HGVS NC_000011.9:g.118360867dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000030725.29,