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rs727503777

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727503777(C;T)
Make rs727503777(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position118473392
GeneKMT2A
is asnp
is mentioned by
dbSNPrs727503777
ClinGenrs727503777
ebirs727503777
HLIrs727503777
Exacrs727503777
Varsomers727503777
Maprs727503777
PheGenIrs727503777
hapmaprs727503777
1000 genomesrs727503777
hgdprs727503777
ensemblrs727503777
gopubmedrs727503777
geneviewrs727503777
scholarrs727503777
googlers727503777
pharmgkbrs727503777
gwascentralrs727503777
openSNPrs727503777
23andMers727503777
23andMe allrs727503777
SNP Nexus

SNPshotrs727503777
SNPdbers727503777
MSV3drs727503777
GWAS Ctlgrs727503777
Max Magnitude0
ClinVar
Risk rs727503777(T;T)
Alt rs727503777(T;T)
Reference Rs727503777(C;C)
Significance Pathogenic
Disease Cornelia de Lange syndrome 1
Variation info
Gene KMT2A
CLNDBN Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000011.9:g.118344107C>T
CLNSRC
CLNACC RCV000157053.1,