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rs1057519407

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519407(A;A)
Make rs1057519407(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position118490250
GeneKMT2A
is asnp
is mentioned by
dbSNPrs1057519407
dbSNP (old)rs1057519407
ClinGenrs1057519407
ebirs1057519407
HLIrs1057519407
Exacrs1057519407
Gnomadrs1057519407
Varsomers1057519407
Maprs1057519407
PheGenIrs1057519407
Biobankrs1057519407
1000 genomesrs1057519407
hgdprs1057519407
ensemblrs1057519407
gopubmedrs1057519407
geneviewrs1057519407
scholarrs1057519407
googlers1057519407
pharmgkbrs1057519407
gwascentralrs1057519407
openSNPrs1057519407
23andMers1057519407
23andMe allrs1057519407
SNPshotrs1057519407
SNPdbers1057519407
MSV3drs1057519407
GWAS Ctlgrs1057519407
Max Magnitude0
ClinVar
Risk rs1057519407(A;A)
Alt rs1057519407(A;A)
Reference Rs1057519407(G;G)
Significance Pathogenic
Disease Wiedemann-Steiner syndrome
Variation info
Gene KMT2A
CLNDBN Wiedemann-Steiner syndrome
Reversed 0
HGVS NC_000011.9:g.118360965G>A
CLNSRC
CLNACC RCV000417093.1,