rs72648320
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs72648320(A;A) |
Make rs72648320(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 50195433 |
Gene | COL1A1 |
is a | snp |
is | mentioned by |
dbSNP | rs72648320 |
dbSNP (classic) | rs72648320 |
ClinGen | rs72648320 |
ebi | rs72648320 |
HLI | rs72648320 |
Exac | rs72648320 |
Gnomad | rs72648320 |
Varsome | rs72648320 |
LitVar | rs72648320 |
Map | rs72648320 |
PheGenI | rs72648320 |
Biobank | rs72648320 |
1000 genomes | rs72648320 |
hgdp | rs72648320 |
ensembl | rs72648320 |
geneview | rs72648320 |
scholar | rs72648320 |
rs72648320 | |
pharmgkb | rs72648320 |
gwascentral | rs72648320 |
openSNP | rs72648320 |
23andMe | rs72648320 |
SNPshot | rs72648320 |
SNPdbe | rs72648320 |
MSV3d | rs72648320 |
GWAS Ctlg | rs72648320 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72648320(A;A) |
Alt | rs72648320(A;A) |
Reference | Rs72648320(G;G) |
Significance | Pathogenic |
Disease | Osteogenesis imperfecta |
Variation | info |
Gene | COL1A1 |
CLNDBN | Osteogenesis imperfecta |
Reversed | 1 |
HGVS | NC_000017.10:g.48272794C>T |
CLNSRC | ClinVar |
CLNACC | RCV000029553.1, |
[PMID 7942841] Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen.