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rs1057519408

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TGTT;TGTT) 0 common in clinvar
Make rs1057519408(-;-)
Make rs1057519408(-;TTGT)
Make rs1057519408(TTGT;TTGT)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position118499343
GeneKMT2A
is asnp
is mentioned by
dbSNPrs1057519408
dbSNP (old)rs1057519408
ClinGenrs1057519408
ebirs1057519408
HLIrs1057519408
Exacrs1057519408
Gnomadrs1057519408
Varsomers1057519408
Maprs1057519408
PheGenIrs1057519408
Biobankrs1057519408
1000 genomesrs1057519408
hgdprs1057519408
ensemblrs1057519408
gopubmedrs1057519408
geneviewrs1057519408
scholarrs1057519408
googlers1057519408
pharmgkbrs1057519408
gwascentralrs1057519408
openSNPrs1057519408
23andMers1057519408
23andMe allrs1057519408
SNPshotrs1057519408
SNPdbers1057519408
MSV3drs1057519408
GWAS Ctlgrs1057519408
Max Magnitude0
ClinVar
Risk rs1057519408(-;-)
Alt rs1057519408(-;-)
Reference Rs1057519408(TGTT;TGTT)
Significance Pathogenic
Disease Wiedemann-Steiner syndrome
Variation info
Gene KMT2A
CLNDBN Wiedemann-Steiner syndrome
Reversed 0
HGVS NC_000011.9:g.118370058_118370061delTTGT
CLNSRC
CLNACC RCV000417101.1,