rs751670999
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs751670999(C;C) |
Make rs751670999(C;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 16 |
Position | 68352314 |
Gene | PRMT7 |
is a | snp |
is | mentioned by |
dbSNP | rs751670999 |
dbSNP (classic) | rs751670999 |
ClinGen | rs751670999 |
ebi | rs751670999 |
HLI | rs751670999 |
Exac | rs751670999 |
Gnomad | rs751670999 |
Varsome | rs751670999 |
LitVar | rs751670999 |
Map | rs751670999 |
PheGenI | rs751670999 |
Biobank | rs751670999 |
1000 genomes | rs751670999 |
hgdp | rs751670999 |
ensembl | rs751670999 |
geneview | rs751670999 |
scholar | rs751670999 |
rs751670999 | |
pharmgkb | rs751670999 |
gwascentral | rs751670999 |
openSNP | rs751670999 |
23andMe | rs751670999 |
SNPshot | rs751670999 |
SNPdbe | rs751670999 |
MSV3d | rs751670999 |
GWAS Ctlg | rs751670999 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs751670999(C;C) |
Alt | rs751670999(C;C) |
Reference | Rs751670999(T;T) |
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.68386217T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000256434.1, |