rs587783626
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587783626(C;T) |
Make rs587783626(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 148809370 |
Gene | EZH2 |
is a | snp |
is | mentioned by |
dbSNP | rs587783626 |
dbSNP (classic) | rs587783626 |
ClinGen | rs587783626 |
ebi | rs587783626 |
HLI | rs587783626 |
Exac | rs587783626 |
Gnomad | rs587783626 |
Varsome | rs587783626 |
LitVar | rs587783626 |
Map | rs587783626 |
PheGenI | rs587783626 |
Biobank | rs587783626 |
1000 genomes | rs587783626 |
hgdp | rs587783626 |
ensembl | rs587783626 |
geneview | rs587783626 |
scholar | rs587783626 |
rs587783626 | |
pharmgkb | rs587783626 |
gwascentral | rs587783626 |
openSNP | rs587783626 |
23andMe | rs587783626 |
SNPshot | rs587783626 |
SNPdbe | rs587783626 |
MSV3d | rs587783626 |
GWAS Ctlg | rs587783626 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587783626(T;T) |
Alt | rs587783626(T;T) |
Reference | Rs587783626(C;C) |
Significance | Pathogenic |
Disease | Weaver syndrome |
Variation | info |
Gene | EZH2 |
CLNDBN | Weaver syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.148506462G>A |
CLNSRC | |
CLNACC | RCV000145975.1, |