rs72656332
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs72656332(A;A) |
Make rs72656332(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 50186895 |
Gene | COL1A1 |
is a | snp |
is | mentioned by |
dbSNP | rs72656332 |
dbSNP (classic) | rs72656332 |
ClinGen | rs72656332 |
ebi | rs72656332 |
HLI | rs72656332 |
Exac | rs72656332 |
Gnomad | rs72656332 |
Varsome | rs72656332 |
LitVar | rs72656332 |
Map | rs72656332 |
PheGenI | rs72656332 |
Biobank | rs72656332 |
1000 genomes | rs72656332 |
hgdp | rs72656332 |
ensembl | rs72656332 |
geneview | rs72656332 |
scholar | rs72656332 |
rs72656332 | |
pharmgkb | rs72656332 |
gwascentral | rs72656332 |
openSNP | rs72656332 |
23andMe | rs72656332 |
SNPshot | rs72656332 |
SNPdbe | rs72656332 |
MSV3d | rs72656332 |
GWAS Ctlg | rs72656332 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72656332(A;A) |
Alt | rs72656332(A;A) |
Reference | Rs72656332(G;G) |
Significance | Pathogenic |
Disease | Osteogenesis imperfecta |
Variation | info |
Gene | COL1A1 |
CLNDBN | Osteogenesis imperfecta, recessive perinatal lethal |
Reversed | 1 |
HGVS | NC_000017.10:g.48264256C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018843.26, |