rs374020067
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs374020067(C;T) |
Make rs374020067(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 134732083 |
Gene | COL5A1 |
is a | snp |
is | mentioned by |
dbSNP | rs374020067 |
dbSNP (classic) | rs374020067 |
ClinGen | rs374020067 |
ebi | rs374020067 |
HLI | rs374020067 |
Exac | rs374020067 |
Gnomad | rs374020067 |
Varsome | rs374020067 |
LitVar | rs374020067 |
Map | rs374020067 |
PheGenI | rs374020067 |
Biobank | rs374020067 |
1000 genomes | rs374020067 |
hgdp | rs374020067 |
ensembl | rs374020067 |
geneview | rs374020067 |
scholar | rs374020067 |
rs374020067 | |
pharmgkb | rs374020067 |
gwascentral | rs374020067 |
openSNP | rs374020067 |
23andMe | rs374020067 |
SNPshot | rs374020067 |
SNPdbe | rs374020067 |
MSV3d | rs374020067 |
GWAS Ctlg | rs374020067 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs374020067(T;T) |
Alt | rs374020067(T;T) |
Reference | Rs374020067(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified |
Variation | info |
Gene | COL5A1 |
CLNDBN | not specified |
Reversed | 0 |
HGVS | NC_000009.11:g.137623929C>T |
CLNSRC | |
CLNACC | RCV000197283.2, |