rs121912678
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 7 | Fibrodysplasia ossificans progressiva |
(G;G) | 0 | common in clinvar |
Make rs121912678(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 157774114 |
Gene | ACVR1 |
is a | snp |
is | mentioned by |
dbSNP | rs121912678 |
dbSNP (classic) | rs121912678 |
ClinGen | rs121912678 |
ebi | rs121912678 |
HLI | rs121912678 |
Exac | rs121912678 |
Gnomad | rs121912678 |
Varsome | rs121912678 |
LitVar | rs121912678 |
Map | rs121912678 |
PheGenI | rs121912678 |
Biobank | rs121912678 |
1000 genomes | rs121912678 |
hgdp | rs121912678 |
ensembl | rs121912678 |
geneview | rs121912678 |
scholar | rs121912678 |
rs121912678 | |
pharmgkb | rs121912678 |
gwascentral | rs121912678 |
openSNP | rs121912678 |
23andMe | rs121912678 |
SNPshot | rs121912678 |
SNPdbe | rs121912678 |
MSV3d | rs121912678 |
GWAS Ctlg | rs121912678 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs121912678(A;A) rs121912678(C;C) |
Alt | rs121912678(A;A) rs121912678(C;C) |
Reference | Rs121912678(G;G) |
Significance | Pathogenic |
Disease | Progressive myositis ossificans not provided |
Variation | info |
Gene | ACVR1 |
CLNDBN | Progressive myositis ossificans not provided |
Reversed | 1 |
HGVS | NC_000002.11:g.158630626C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000019971.27, RCV000422441.1, |