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rs797045051

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045051(A;A)
Make rs797045051(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position118495830
GeneKMT2A
is asnp
is mentioned by
dbSNPrs797045051
ebirs797045051
HLIrs797045051
Exacrs797045051
Varsomers797045051
Maprs797045051
PheGenIrs797045051
hapmaprs797045051
1000 genomesrs797045051
hgdprs797045051
ensemblrs797045051
gopubmedrs797045051
geneviewrs797045051
scholarrs797045051
googlers797045051
pharmgkbrs797045051
gwascentralrs797045051
openSNPrs797045051
23andMers797045051
23andMe allrs797045051
SNP Nexus

SNPshotrs797045051
SNPdbers797045051
MSV3drs797045051
GWAS Ctlgrs797045051
Max Magnitude0
ClinVar
Risk rs797045051(A;A)
Alt rs797045051(A;A)
Reference rs797045051(C;C)
Significance Probable-Pathogenic
Disease Wiedemann-Steiner syndrome
Variation info
Gene KMT2A
CLNDBN Wiedemann-Steiner syndrome
Reversed 0
HGVS NC_000011.9:g.118366545C>A
CLNSRC Baylor College of Medicine
CLNACC RCV000191101.1,