rs747946828
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs747946828(A;A) |
Make rs747946828(A;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 189043231 |
Gene | COL5A2 |
is a | snp |
is | mentioned by |
dbSNP | rs747946828 |
dbSNP (classic) | rs747946828 |
ClinGen | rs747946828 |
ebi | rs747946828 |
HLI | rs747946828 |
Exac | rs747946828 |
Gnomad | rs747946828 |
Varsome | rs747946828 |
LitVar | rs747946828 |
Map | rs747946828 |
PheGenI | rs747946828 |
Biobank | rs747946828 |
1000 genomes | rs747946828 |
hgdp | rs747946828 |
ensembl | rs747946828 |
geneview | rs747946828 |
scholar | rs747946828 |
rs747946828 | |
pharmgkb | rs747946828 |
gwascentral | rs747946828 |
openSNP | rs747946828 |
23andMe | rs747946828 |
SNPshot | rs747946828 |
SNPdbe | rs747946828 |
MSV3d | rs747946828 |
GWAS Ctlg | rs747946828 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs747946828(A;A) rs747946828(T;T) |
Alt | rs747946828(A;A) rs747946828(T;T) |
Reference | Rs747946828(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | COL5A2 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.189907957C>T |
CLNSRC | |
CLNACC | RCV000200482.1, |