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rs782477344

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs782477344(C;T)
Make rs782477344(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position118511963
GeneKMT2A, LOC101929089
is asnp
is mentioned by
dbSNPrs782477344
ebirs782477344
HLIrs782477344
Exacrs782477344
Varsomers782477344
Maprs782477344
PheGenIrs782477344
hapmaprs782477344
1000 genomesrs782477344
hgdprs782477344
ensemblrs782477344
gopubmedrs782477344
geneviewrs782477344
scholarrs782477344
googlers782477344
pharmgkbrs782477344
gwascentralrs782477344
openSNPrs782477344
23andMers782477344
23andMe allrs782477344
SNP Nexus

SNPshotrs782477344
SNPdbers782477344
MSV3drs782477344
GWAS Ctlgrs782477344
Max Magnitude0
ClinVar
Risk rs782477344(T;T)
Alt rs782477344(T;T)
Reference rs782477344(C;C)
Significance Pathogenic
Disease Wiedemann-Steiner syndrome
Variation info
Gene KMT2A LOC101929089
CLNDBN Wiedemann-Steiner syndrome
Reversed 0
HGVS NC_000011.9:g.118382678C>G
CLNSRC
CLNACC RCV000194582.1,