rs151187317
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs151187317(C;T) |
Make rs151187317(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 189043249 |
Gene | COL5A2 |
is a | snp |
is | mentioned by |
dbSNP | rs151187317 |
dbSNP (classic) | rs151187317 |
ClinGen | rs151187317 |
ebi | rs151187317 |
HLI | rs151187317 |
Exac | rs151187317 |
Gnomad | rs151187317 |
Varsome | rs151187317 |
LitVar | rs151187317 |
Map | rs151187317 |
PheGenI | rs151187317 |
Biobank | rs151187317 |
1000 genomes | rs151187317 |
hgdp | rs151187317 |
ensembl | rs151187317 |
geneview | rs151187317 |
scholar | rs151187317 |
rs151187317 | |
pharmgkb | rs151187317 |
gwascentral | rs151187317 |
openSNP | rs151187317 |
23andMe | rs151187317 |
SNPshot | rs151187317 |
SNPdbe | rs151187317 |
MSV3d | rs151187317 |
GWAS Ctlg | rs151187317 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs151187317(T;T) |
Alt | rs151187317(T;T) |
Reference | Rs151187317(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | COL5A2 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.189907975C>T |
CLNSRC | |
CLNACC | RCV000423732.1, |