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rs1057517992

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517992(C;T)
Make rs1057517992(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position49031861
GeneKMT2D
is asnp
is mentioned by
dbSNPrs1057517992
dbSNP (classic)rs1057517992
ClinGenrs1057517992
ebirs1057517992
HLIrs1057517992
Exacrs1057517992
Gnomadrs1057517992
Varsomers1057517992
LitVarrs1057517992
Maprs1057517992
PheGenIrs1057517992
Biobankrs1057517992
1000 genomesrs1057517992
hgdprs1057517992
ensemblrs1057517992
geneviewrs1057517992
scholarrs1057517992
googlers1057517992
pharmgkbrs1057517992
gwascentralrs1057517992
openSNPrs1057517992
23andMers1057517992
23andMe allrs1057517992
SNPshotrs1057517992
SNPdbers1057517992
MSV3drs1057517992
GWAS Ctlgrs1057517992
Max Magnitude0
ClinVar
Risk rs1057517992(T;T)
Alt rs1057517992(T;T)
Reference Rs1057517992(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene KMT2D
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.49425644G>A
CLNSRC
CLNACC RCV000413702.1,