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rs587783680

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783680(C;T)
Make rs587783680(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position118503987
GeneKMT2A
is asnp
is mentioned by
dbSNPrs587783680
ebirs587783680
HLIrs587783680
Exacrs587783680
Varsomers587783680
Maprs587783680
PheGenIrs587783680
hapmaprs587783680
1000 genomesrs587783680
hgdprs587783680
ensemblrs587783680
gopubmedrs587783680
geneviewrs587783680
scholarrs587783680
googlers587783680
pharmgkbrs587783680
gwascentralrs587783680
openSNPrs587783680
23andMers587783680
23andMe allrs587783680
SNP Nexus

SNPshotrs587783680
SNPdbers587783680
MSV3drs587783680
GWAS Ctlgrs587783680
Max Magnitude0
ClinVar
Risk rs587783680(T;T)
Alt rs587783680(T;T)
Reference rs587783680(C;C)
Significance Pathogenic
Disease Wiedemann-Steiner syndrome
Variation info
Gene KMT2A
CLNDBN Wiedemann-Steiner syndrome
Reversed 0
HGVS NC_000011.9:g.118374702C>T
CLNSRC
CLNACC RCV000146145.1,