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rs587783676

From SNPedia

Orientationplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs587783676(-;-)
Make rs587783676(-;GA)
Make rs587783676(GA;GA)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position118473832
GeneKMT2A
is asnp
is mentioned by
dbSNPrs587783676
ebirs587783676
HLIrs587783676
Exacrs587783676
Varsomers587783676
Maprs587783676
PheGenIrs587783676
hapmaprs587783676
1000 genomesrs587783676
hgdprs587783676
ensemblrs587783676
gopubmedrs587783676
geneviewrs587783676
scholarrs587783676
googlers587783676
pharmgkbrs587783676
gwascentralrs587783676
openSNPrs587783676
23andMers587783676
23andMe allrs587783676
SNP Nexus

SNPshotrs587783676
SNPdbers587783676
MSV3drs587783676
GWAS Ctlgrs587783676
Max Magnitude0
ClinVar
Risk rs587783676(;)
Alt rs587783676(;)
Reference rs587783676(AG;AG)
Significance Pathogenic
Disease Wiedemann-Steiner syndrome
Variation info
Gene KMT2A
CLNDBN Wiedemann-Steiner syndrome
Reversed 0
HGVS NC_000011.9:g.118344547_118344548delGA
CLNSRC
CLNACC RCV000146137.1,