rs782477344
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs782477344(C;T) |
Make rs782477344(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 118511963 |
Gene | KMT2A, LOC101929089 |
is a | snp |
is | mentioned by |
dbSNP | rs782477344 |
dbSNP (classic) | rs782477344 |
ClinGen | rs782477344 |
ebi | rs782477344 |
HLI | rs782477344 |
Exac | rs782477344 |
Gnomad | rs782477344 |
Varsome | rs782477344 |
LitVar | rs782477344 |
Map | rs782477344 |
PheGenI | rs782477344 |
Biobank | rs782477344 |
1000 genomes | rs782477344 |
hgdp | rs782477344 |
ensembl | rs782477344 |
geneview | rs782477344 |
scholar | rs782477344 |
rs782477344 | |
pharmgkb | rs782477344 |
gwascentral | rs782477344 |
openSNP | rs782477344 |
23andMe | rs782477344 |
SNPshot | rs782477344 |
SNPdbe | rs782477344 |
MSV3d | rs782477344 |
GWAS Ctlg | rs782477344 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs782477344(G;G) rs782477344(T;T) |
Alt | rs782477344(G;G) rs782477344(T;T) |
Reference | Rs782477344(C;C) |
Significance | Pathogenic |
Disease | Wiedemann-Steiner syndrome |
Variation | info |
Gene | KMT2A LOC101929089 |
CLNDBN | Wiedemann-Steiner syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.118382678C>G |
CLNSRC | |
CLNACC | RCV000194582.1, |