rs121908130
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121908130(A;A) |
Make rs121908130(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 77031225 |
Gene | PSTPIP1 |
is a | snp |
is | mentioned by |
dbSNP | rs121908130 |
dbSNP (classic) | rs121908130 |
ClinGen | rs121908130 |
ebi | rs121908130 |
HLI | rs121908130 |
Exac | rs121908130 |
Gnomad | rs121908130 |
Varsome | rs121908130 |
LitVar | rs121908130 |
Map | rs121908130 |
PheGenI | rs121908130 |
Biobank | rs121908130 |
1000 genomes | rs121908130 |
hgdp | rs121908130 |
ensembl | rs121908130 |
geneview | rs121908130 |
scholar | rs121908130 |
rs121908130 | |
pharmgkb | rs121908130 |
gwascentral | rs121908130 |
openSNP | rs121908130 |
23andMe | rs121908130 |
SNPshot | rs121908130 |
SNPdbe | rs121908130 |
MSV3d | rs121908130 |
GWAS Ctlg | rs121908130 |
Merged from | Rs28939381 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908130(A;A) |
Alt | rs121908130(A;A) |
Reference | Rs121908130(G;G) |
Significance | Pathogenic |
Disease | Pyogenic arthritis not provided |
Variation | info |
Gene | PSTPIP1 |
CLNDBN | Pyogenic arthritis, pyoderma gangrenosum and acne not provided |
Reversed | 0 |
HGVS | NC_000015.9:g.77323566G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000004685.2, RCV000419297.1, |