rs775407864
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs775407864(A;G) |
Make rs775407864(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 148846567 |
Gene | EZH2 |
is a | snp |
is | mentioned by |
dbSNP | rs775407864 |
dbSNP (classic) | rs775407864 |
ClinGen | rs775407864 |
ebi | rs775407864 |
HLI | rs775407864 |
Exac | rs775407864 |
Gnomad | rs775407864 |
Varsome | rs775407864 |
LitVar | rs775407864 |
Map | rs775407864 |
PheGenI | rs775407864 |
Biobank | rs775407864 |
1000 genomes | rs775407864 |
hgdp | rs775407864 |
ensembl | rs775407864 |
geneview | rs775407864 |
scholar | rs775407864 |
rs775407864 | |
pharmgkb | rs775407864 |
gwascentral | rs775407864 |
openSNP | rs775407864 |
23andMe | rs775407864 |
SNPshot | rs775407864 |
SNPdbe | rs775407864 |
MSV3d | rs775407864 |
GWAS Ctlg | rs775407864 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs775407864(G;G) |
Alt | rs775407864(G;G) |
Reference | Rs775407864(A;A) |
Significance | Pathogenic |
Disease | Weaver syndrome |
Variation | info |
Gene | EZH2 |
CLNDBN | Weaver syndrome |
Reversed | 0 |
HGVS | NC_000007.13:g.148543659A>G |
CLNSRC | |
CLNACC | RCV000204286.1, |