rs199754807
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199754807(C;G) |
Make rs199754807(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 5 |
Position | 60945369 |
Gene | ERCC8, NDUFAF2 |
is a | snp |
is | mentioned by |
dbSNP | rs199754807 |
dbSNP (classic) | rs199754807 |
ClinGen | rs199754807 |
ebi | rs199754807 |
HLI | rs199754807 |
Exac | rs199754807 |
Gnomad | rs199754807 |
Varsome | rs199754807 |
LitVar | rs199754807 |
Map | rs199754807 |
PheGenI | rs199754807 |
Biobank | rs199754807 |
1000 genomes | rs199754807 |
hgdp | rs199754807 |
ensembl | rs199754807 |
geneview | rs199754807 |
scholar | rs199754807 |
rs199754807 | |
pharmgkb | rs199754807 |
gwascentral | rs199754807 |
openSNP | rs199754807 |
23andMe | rs199754807 |
SNPshot | rs199754807 |
SNPdbe | rs199754807 |
MSV3d | rs199754807 |
GWAS Ctlg | rs199754807 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199754807(G;G) |
Alt | rs199754807(G;G) |
Reference | Rs199754807(C;C) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | NDUFAF2 ERCC8 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000005.9:g.60241196C>G |
CLNSRC | |
CLNACC | RCV000485122.1, |