rs201824659
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201824659(G;T) |
Make rs201824659(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 16 |
Position | 68346144 |
Gene | PRMT7 |
is a | snp |
is | mentioned by |
dbSNP | rs201824659 |
dbSNP (classic) | rs201824659 |
ClinGen | rs201824659 |
ebi | rs201824659 |
HLI | rs201824659 |
Exac | rs201824659 |
Gnomad | rs201824659 |
Varsome | rs201824659 |
LitVar | rs201824659 |
Map | rs201824659 |
PheGenI | rs201824659 |
Biobank | rs201824659 |
1000 genomes | rs201824659 |
hgdp | rs201824659 |
ensembl | rs201824659 |
geneview | rs201824659 |
scholar | rs201824659 |
rs201824659 | |
pharmgkb | rs201824659 |
gwascentral | rs201824659 |
openSNP | rs201824659 |
23andMe | rs201824659 |
SNPshot | rs201824659 |
SNPdbe | rs201824659 |
MSV3d | rs201824659 |
GWAS Ctlg | rs201824659 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201824659(T;T) |
Alt | rs201824659(T;T) |
Reference | Rs201824659(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.68380047G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000256436.1, |