rs72659338
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs72659338(A;A) |
Make rs72659338(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 94427654 |
Gene | COL1A2 |
is a | snp |
is | mentioned by |
dbSNP | rs72659338 |
dbSNP (classic) | rs72659338 |
ClinGen | rs72659338 |
ebi | rs72659338 |
HLI | rs72659338 |
Exac | rs72659338 |
Gnomad | rs72659338 |
Varsome | rs72659338 |
LitVar | rs72659338 |
Map | rs72659338 |
PheGenI | rs72659338 |
Biobank | rs72659338 |
1000 genomes | rs72659338 |
hgdp | rs72659338 |
ensembl | rs72659338 |
geneview | rs72659338 |
scholar | rs72659338 |
rs72659338 | |
pharmgkb | rs72659338 |
gwascentral | rs72659338 |
openSNP | rs72659338 |
23andMe | rs72659338 |
SNPshot | rs72659338 |
SNPdbe | rs72659338 |
MSV3d | rs72659338 |
GWAS Ctlg | rs72659338 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72659338(A;A) |
Alt | rs72659338(A;A) |
Reference | Rs72659338(G;G) |
Significance | Pathogenic |
Disease | Osteogenesis imperfecta type III |
Variation | info |
Gene | COL1A2 |
CLNDBN | Osteogenesis imperfecta type III |
Reversed | 0 |
HGVS | NC_000007.13:g.94056966G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018824.28, |