rs762515973
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs762515973(A;G) |
Make rs762515973(G;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 16 |
Position | 68346248 |
Gene | PRMT7 |
is a | snp |
is | mentioned by |
dbSNP | rs762515973 |
dbSNP (classic) | rs762515973 |
ClinGen | rs762515973 |
ebi | rs762515973 |
HLI | rs762515973 |
Exac | rs762515973 |
Gnomad | rs762515973 |
Varsome | rs762515973 |
LitVar | rs762515973 |
Map | rs762515973 |
PheGenI | rs762515973 |
Biobank | rs762515973 |
1000 genomes | rs762515973 |
hgdp | rs762515973 |
ensembl | rs762515973 |
geneview | rs762515973 |
scholar | rs762515973 |
rs762515973 | |
pharmgkb | rs762515973 |
gwascentral | rs762515973 |
openSNP | rs762515973 |
23andMe | rs762515973 |
SNPshot | rs762515973 |
SNPdbe | rs762515973 |
MSV3d | rs762515973 |
GWAS Ctlg | rs762515973 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs762515973(G;G) |
Alt | rs762515973(G;G) |
Reference | Rs762515973(A;A) |
Significance | Pathogenic |
Disease | Short stature |
Variation | info |
Gene | PRMT7 |
CLNDBN | Short stature, brachydactyly, intellectual developmental disability, and seizures |
Reversed | 0 |
HGVS | NC_000016.9:g.68380151A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000256485.1, |