rs138048445
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs138048445(A;A) |
Make rs138048445(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 51914495 |
Gene | ACVRL1 |
is a | snp |
is | mentioned by |
dbSNP | rs138048445 |
dbSNP (classic) | rs138048445 |
ClinGen | rs138048445 |
ebi | rs138048445 |
HLI | rs138048445 |
Exac | rs138048445 |
Gnomad | rs138048445 |
Varsome | rs138048445 |
LitVar | rs138048445 |
Map | rs138048445 |
PheGenI | rs138048445 |
Biobank | rs138048445 |
1000 genomes | rs138048445 |
hgdp | rs138048445 |
ensembl | rs138048445 |
geneview | rs138048445 |
scholar | rs138048445 |
rs138048445 | |
pharmgkb | rs138048445 |
gwascentral | rs138048445 |
openSNP | rs138048445 |
23andMe | rs138048445 |
SNPshot | rs138048445 |
SNPdbe | rs138048445 |
MSV3d | rs138048445 |
GWAS Ctlg | rs138048445 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138048445(A;A) |
Alt | rs138048445(A;A) |
Reference | Rs138048445(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | ACVRL1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000012.11:g.52308279G>A |
CLNSRC | |
CLNACC | RCV000198425.2, |