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rs1057519403

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519403(A;A)
Make rs1057519403(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position118499835
GeneKMT2A
is asnp
is mentioned by
dbSNPrs1057519403
dbSNP (old)rs1057519403
ClinGenrs1057519403
ebirs1057519403
HLIrs1057519403
Exacrs1057519403
Gnomadrs1057519403
Varsomers1057519403
Maprs1057519403
PheGenIrs1057519403
Biobankrs1057519403
1000 genomesrs1057519403
hgdprs1057519403
ensemblrs1057519403
gopubmedrs1057519403
geneviewrs1057519403
scholarrs1057519403
googlers1057519403
pharmgkbrs1057519403
gwascentralrs1057519403
openSNPrs1057519403
23andMers1057519403
23andMe allrs1057519403
SNPshotrs1057519403
SNPdbers1057519403
MSV3drs1057519403
GWAS Ctlgrs1057519403
Max Magnitude0
ClinVar
Risk rs1057519403(A;A)
Alt rs1057519403(A;A)
Reference Rs1057519403(G;G)
Significance Probable-Pathogenic
Disease Wiedemann-Steiner syndrome
Variation info
Gene KMT2A
CLNDBN Wiedemann-Steiner syndrome
Reversed 0
HGVS NC_000011.9:g.118370550G>A
CLNSRC
CLNACC RCV000417110.1,