rs72659357
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs72659357(A;A) |
Make rs72659357(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 33114080 |
Gene | CRTAP |
is a | snp |
is | mentioned by |
dbSNP | rs72659357 |
dbSNP (classic) | rs72659357 |
ClinGen | rs72659357 |
ebi | rs72659357 |
HLI | rs72659357 |
Exac | rs72659357 |
Gnomad | rs72659357 |
Varsome | rs72659357 |
LitVar | rs72659357 |
Map | rs72659357 |
PheGenI | rs72659357 |
Biobank | rs72659357 |
1000 genomes | rs72659357 |
hgdp | rs72659357 |
ensembl | rs72659357 |
geneview | rs72659357 |
scholar | rs72659357 |
rs72659357 | |
pharmgkb | rs72659357 |
gwascentral | rs72659357 |
openSNP | rs72659357 |
23andMe | rs72659357 |
SNPshot | rs72659357 |
SNPdbe | rs72659357 |
MSV3d | rs72659357 |
GWAS Ctlg | rs72659357 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72659357(A;A) |
Alt | rs72659357(A;A) |
Reference | Rs72659357(G;G) |
Significance | Pathogenic |
Disease | Osteogenesis imperfecta type 7 |
Variation | info |
Gene | CRTAP |
CLNDBN | Osteogenesis imperfecta type 7 |
Reversed | 0 |
HGVS | NC_000003.11:g.33155572G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005239.4, |