rs387907303
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs387907303(A;A) |
Make rs387907303(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 2229113 |
Gene | SKI |
is a | snp |
is | mentioned by |
dbSNP | rs387907303 |
dbSNP (classic) | rs387907303 |
ClinGen | rs387907303 |
ebi | rs387907303 |
HLI | rs387907303 |
Exac | rs387907303 |
Gnomad | rs387907303 |
Varsome | rs387907303 |
LitVar | rs387907303 |
Map | rs387907303 |
PheGenI | rs387907303 |
Biobank | rs387907303 |
1000 genomes | rs387907303 |
hgdp | rs387907303 |
ensembl | rs387907303 |
geneview | rs387907303 |
scholar | rs387907303 |
rs387907303 | |
pharmgkb | rs387907303 |
gwascentral | rs387907303 |
openSNP | rs387907303 |
23andMe | rs387907303 |
SNPshot | rs387907303 |
SNPdbe | rs387907303 |
MSV3d | rs387907303 |
GWAS Ctlg | rs387907303 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387907303(A;A) |
Alt | rs387907303(A;A) |
Reference | Rs387907303(G;G) |
Significance | Pathogenic |
Disease | Shprintzen-Goldberg syndrome |
Variation | info |
Gene | SKI |
CLNDBN | Shprintzen-Goldberg syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.2160552G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000030816.26, |