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rs1057518649

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057518649(-;C)
Make rs1057518649(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position118473477
GeneKMT2A
is asnp
is mentioned by
dbSNPrs1057518649
dbSNP (classic)rs1057518649
ClinGenrs1057518649
ebirs1057518649
HLIrs1057518649
Exacrs1057518649
Gnomadrs1057518649
Varsomers1057518649
LitVarrs1057518649
Maprs1057518649
PheGenIrs1057518649
Biobankrs1057518649
1000 genomesrs1057518649
hgdprs1057518649
ensemblrs1057518649
geneviewrs1057518649
scholarrs1057518649
googlers1057518649
pharmgkbrs1057518649
gwascentralrs1057518649
openSNPrs1057518649
23andMers1057518649
23andMe allrs1057518649
SNPshotrs1057518649
SNPdbers1057518649
MSV3drs1057518649
GWAS Ctlgrs1057518649
Max Magnitude0
ClinVar
Risk rs1057518649(C;C)
Alt rs1057518649(C;C)
Reference Rs1057518649(-;-)
Significance Pathogenic
Disease Wiedemann-Steiner syndrome
Variation info
Gene KMT2A
CLNDBN Wiedemann-Steiner syndrome
Reversed 0
HGVS NC_000011.9:g.118344192dupC
CLNSRC
CLNACC RCV000415145.1,