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rs587783678

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783678(C;G)
Make rs587783678(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position118468800
GeneKMT2A
is asnp
is mentioned by
dbSNPrs587783678
ebirs587783678
HLIrs587783678
Exacrs587783678
Varsomers587783678
Maprs587783678
PheGenIrs587783678
hapmaprs587783678
1000 genomesrs587783678
hgdprs587783678
ensemblrs587783678
gopubmedrs587783678
geneviewrs587783678
scholarrs587783678
googlers587783678
pharmgkbrs587783678
gwascentralrs587783678
openSNPrs587783678
23andMers587783678
23andMe allrs587783678
SNP Nexus

SNPshotrs587783678
SNPdbers587783678
MSV3drs587783678
GWAS Ctlgrs587783678
Max Magnitude0
ClinVar
Risk rs587783678(G;G)
Alt rs587783678(G;G)
Reference rs587783678(C;C)
Significance Pathogenic
Disease Wiedemann-Steiner syndrome
Variation info
Gene KMT2A
CLNDBN Wiedemann-Steiner syndrome
Reversed 0
HGVS NC_000011.9:g.118339515C>G
CLNSRC
CLNACC RCV000146140.1,