rs149170494
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs149170494(C;C) |
Make rs149170494(C;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 16 |
Position | 68316074 |
Gene | PRMT7 |
is a | snp |
is | mentioned by |
dbSNP | rs149170494 |
dbSNP (classic) | rs149170494 |
ClinGen | rs149170494 |
ebi | rs149170494 |
HLI | rs149170494 |
Exac | rs149170494 |
Gnomad | rs149170494 |
Varsome | rs149170494 |
LitVar | rs149170494 |
Map | rs149170494 |
PheGenI | rs149170494 |
Biobank | rs149170494 |
1000 genomes | rs149170494 |
hgdp | rs149170494 |
ensembl | rs149170494 |
geneview | rs149170494 |
scholar | rs149170494 |
rs149170494 | |
pharmgkb | rs149170494 |
gwascentral | rs149170494 |
openSNP | rs149170494 |
23andMe | rs149170494 |
SNPshot | rs149170494 |
SNPdbe | rs149170494 |
MSV3d | rs149170494 |
GWAS Ctlg | rs149170494 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs149170494(C;C) |
Alt | rs149170494(C;C) |
Reference | Rs149170494(G;G) |
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.68349977G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000256464.1, |