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rs587783679

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783679(G;T)
Make rs587783679(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position118503723
GeneKMT2A
is asnp
is mentioned by
dbSNPrs587783679
ebirs587783679
HLIrs587783679
Exacrs587783679
Varsomers587783679
Maprs587783679
PheGenIrs587783679
hapmaprs587783679
1000 genomesrs587783679
hgdprs587783679
ensemblrs587783679
gopubmedrs587783679
geneviewrs587783679
scholarrs587783679
googlers587783679
pharmgkbrs587783679
gwascentralrs587783679
openSNPrs587783679
23andMers587783679
23andMe allrs587783679
SNP Nexus

SNPshotrs587783679
SNPdbers587783679
MSV3drs587783679
GWAS Ctlgrs587783679
Max Magnitude0
ClinVar
Risk rs587783679(T;T)
Alt rs587783679(T;T)
Reference rs587783679(G;G)
Significance Pathogenic
Disease Wiedemann-Steiner syndrome
Variation info
Gene KMT2A
CLNDBN Wiedemann-Steiner syndrome
Reversed 0
HGVS NC_000011.9:g.118374438G>T
CLNSRC
CLNACC RCV000146144.1,