rs727503987
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs727503987(C;T) |
Make rs727503987(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 49049834 |
Gene | KMT2D |
is a | snp |
is | mentioned by |
dbSNP | rs727503987 |
dbSNP (classic) | rs727503987 |
ClinGen | rs727503987 |
ebi | rs727503987 |
HLI | rs727503987 |
Exac | rs727503987 |
Gnomad | rs727503987 |
Varsome | rs727503987 |
LitVar | rs727503987 |
Map | rs727503987 |
PheGenI | rs727503987 |
Biobank | rs727503987 |
1000 genomes | rs727503987 |
hgdp | rs727503987 |
ensembl | rs727503987 |
geneview | rs727503987 |
scholar | rs727503987 |
rs727503987 | |
pharmgkb | rs727503987 |
gwascentral | rs727503987 |
openSNP | rs727503987 |
23andMe | rs727503987 |
SNPshot | rs727503987 |
SNPdbe | rs727503987 |
MSV3d | rs727503987 |
GWAS Ctlg | rs727503987 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727503987(T;T) |
Alt | rs727503987(T;T) |
Reference | Rs727503987(C;C) |
Significance | Pathogenic |
Disease | not provided Kabuki syndrome 1 |
Variation | info |
Gene | KMT2D |
CLNDBN | not provided Kabuki syndrome 1 |
Reversed | 1 |
HGVS | NC_000012.11:g.49443617G>A |
CLNSRC | |
CLNACC | RCV000153419.2, RCV000174080.1, |