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rs1057524689

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057524689(C;C)
Make rs1057524689(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position49024618
GeneKMT2D
is asnp
is mentioned by
dbSNPrs1057524689
dbSNP (old)rs1057524689
ClinGenrs1057524689
ebirs1057524689
HLIrs1057524689
Exacrs1057524689
Gnomadrs1057524689
Varsomers1057524689
Maprs1057524689
PheGenIrs1057524689
Biobankrs1057524689
1000 genomesrs1057524689
hgdprs1057524689
ensemblrs1057524689
gopubmedrs1057524689
geneviewrs1057524689
scholarrs1057524689
googlers1057524689
pharmgkbrs1057524689
gwascentralrs1057524689
openSNPrs1057524689
23andMers1057524689
23andMe allrs1057524689
SNPshotrs1057524689
SNPdbers1057524689
MSV3drs1057524689
GWAS Ctlgrs1057524689
Max Magnitude0
ClinVar
Risk rs1057524689(C;C)
Alt rs1057524689(C;C)
Reference Rs1057524689(T;T)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene KMT2D
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.49418401A>G
CLNSRC
CLNACC RCV000420744.1,