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rs1057518680

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518680(C;G)
Make rs1057518680(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position49051294
GeneKMT2D
is asnp
is mentioned by
dbSNPrs1057518680
dbSNP (old)rs1057518680
ClinGenrs1057518680
ebirs1057518680
HLIrs1057518680
Exacrs1057518680
Gnomadrs1057518680
Varsomers1057518680
Maprs1057518680
PheGenIrs1057518680
Biobankrs1057518680
1000 genomesrs1057518680
hgdprs1057518680
ensemblrs1057518680
gopubmedrs1057518680
geneviewrs1057518680
scholarrs1057518680
googlers1057518680
pharmgkbrs1057518680
gwascentralrs1057518680
openSNPrs1057518680
23andMers1057518680
23andMe allrs1057518680
SNPshotrs1057518680
SNPdbers1057518680
MSV3drs1057518680
GWAS Ctlgrs1057518680
Max Magnitude0
ClinVar
Risk rs1057518680(G;G)
Alt rs1057518680(G;G)
Reference Rs1057518680(C;C)
Significance Probable-Pathogenic
Disease Kabuki syndrome 1
Variation info
Gene KMT2D
CLNDBN Kabuki syndrome 1
Reversed 1
HGVS NC_000012.11:g.49445077G>C
CLNSRC
CLNACC RCV000414866.1,