rs574622908
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs574622908(G;T) |
Make rs574622908(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 49046358 |
Gene | KMT2D |
is a | snp |
is | mentioned by |
dbSNP | rs574622908 |
dbSNP (classic) | rs574622908 |
ClinGen | rs574622908 |
ebi | rs574622908 |
HLI | rs574622908 |
Exac | rs574622908 |
Gnomad | rs574622908 |
Varsome | rs574622908 |
LitVar | rs574622908 |
Map | rs574622908 |
PheGenI | rs574622908 |
Biobank | rs574622908 |
1000 genomes | rs574622908 |
hgdp | rs574622908 |
ensembl | rs574622908 |
geneview | rs574622908 |
scholar | rs574622908 |
rs574622908 | |
pharmgkb | rs574622908 |
gwascentral | rs574622908 |
openSNP | rs574622908 |
23andMe | rs574622908 |
SNPshot | rs574622908 |
SNPdbe | rs574622908 |
MSV3d | rs574622908 |
GWAS Ctlg | rs574622908 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs574622908(C;C) rs574622908(T;T) |
Alt | rs574622908(C;C) rs574622908(T;T) |
Reference | Rs574622908(G;G) |
Significance | Pathogenic |
Disease | Kabuki syndrome 1 |
Variation | info |
Gene | KMT2D |
CLNDBN | Kabuki syndrome 1 |
Reversed | 0 |
HGVS | NC_000012.11:g.49440141G>C |
CLNSRC | |
CLNACC | RCV000175041.1, |