rs72659324
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs72659324(C;C) |
Make rs72659324(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 94426532 |
Gene | COL1A2 |
is a | snp |
is | mentioned by |
dbSNP | rs72659324 |
dbSNP (classic) | rs72659324 |
ClinGen | rs72659324 |
ebi | rs72659324 |
HLI | rs72659324 |
Exac | rs72659324 |
Gnomad | rs72659324 |
Varsome | rs72659324 |
LitVar | rs72659324 |
Map | rs72659324 |
PheGenI | rs72659324 |
Biobank | rs72659324 |
1000 genomes | rs72659324 |
hgdp | rs72659324 |
ensembl | rs72659324 |
geneview | rs72659324 |
scholar | rs72659324 |
rs72659324 | |
pharmgkb | rs72659324 |
gwascentral | rs72659324 |
openSNP | rs72659324 |
23andMe | rs72659324 |
SNPshot | rs72659324 |
SNPdbe | rs72659324 |
MSV3d | rs72659324 |
GWAS Ctlg | rs72659324 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72659324(C;C) |
Alt | rs72659324(C;C) |
Reference | Rs72659324(T;T) |
Significance | Pathogenic |
Disease | Osteogenesis imperfecta/Ehlers-Danlos crossover syndrome |
Variation | info |
Gene | COL1A2 |
CLNDBN | Osteogenesis imperfecta/Ehlers-Danlos crossover syndrome |
Reversed | 0 |
HGVS | NC_000007.13:g.94055844T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018818.25, |