rs587783627
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs587783627(A;G) |
Make rs587783627(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 148807666 |
Gene | EZH2 |
is a | snp |
is | mentioned by |
dbSNP | rs587783627 |
dbSNP (classic) | rs587783627 |
ClinGen | rs587783627 |
ebi | rs587783627 |
HLI | rs587783627 |
Exac | rs587783627 |
Gnomad | rs587783627 |
Varsome | rs587783627 |
LitVar | rs587783627 |
Map | rs587783627 |
PheGenI | rs587783627 |
Biobank | rs587783627 |
1000 genomes | rs587783627 |
hgdp | rs587783627 |
ensembl | rs587783627 |
geneview | rs587783627 |
scholar | rs587783627 |
rs587783627 | |
pharmgkb | rs587783627 |
gwascentral | rs587783627 |
openSNP | rs587783627 |
23andMe | rs587783627 |
SNPshot | rs587783627 |
SNPdbe | rs587783627 |
MSV3d | rs587783627 |
GWAS Ctlg | rs587783627 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587783627(G;G) |
Alt | rs587783627(G;G) |
Reference | Rs587783627(A;A) |
Significance | Probable-Pathogenic |
Disease | Weaver syndrome |
Variation | info |
Gene | EZH2 |
CLNDBN | Weaver syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.148504758T>C |
CLNSRC | |
CLNACC | RCV000145978.1, |