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rs1057518571

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518571(C;T)
Make rs1057518571(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position49040359
GeneKMT2D
is asnp
is mentioned by
dbSNPrs1057518571
dbSNP (classic)rs1057518571
ClinGenrs1057518571
ebirs1057518571
HLIrs1057518571
Exacrs1057518571
Gnomadrs1057518571
Varsomers1057518571
LitVarrs1057518571
Maprs1057518571
PheGenIrs1057518571
Biobankrs1057518571
1000 genomesrs1057518571
hgdprs1057518571
ensemblrs1057518571
geneviewrs1057518571
scholarrs1057518571
googlers1057518571
pharmgkbrs1057518571
gwascentralrs1057518571
openSNPrs1057518571
23andMers1057518571
23andMe allrs1057518571
SNPshotrs1057518571
SNPdbers1057518571
MSV3drs1057518571
GWAS Ctlgrs1057518571
Max Magnitude0
ClinVar
Risk rs1057518571(T;T)
Alt rs1057518571(T;T)
Reference Rs1057518571(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene KMT2D
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.49434142G>A
CLNSRC
CLNACC RCV000414083.1,