rs797044891
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs797044891(A;A) |
Make rs797044891(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 39488169 |
Gene | TIMM50 |
is a | snp |
is | mentioned by |
dbSNP | rs797044891 |
dbSNP (classic) | rs797044891 |
ClinGen | rs797044891 |
ebi | rs797044891 |
HLI | rs797044891 |
Exac | rs797044891 |
Gnomad | rs797044891 |
Varsome | rs797044891 |
LitVar | rs797044891 |
Map | rs797044891 |
PheGenI | rs797044891 |
Biobank | rs797044891 |
1000 genomes | rs797044891 |
hgdp | rs797044891 |
ensembl | rs797044891 |
geneview | rs797044891 |
scholar | rs797044891 |
rs797044891 | |
pharmgkb | rs797044891 |
gwascentral | rs797044891 |
openSNP | rs797044891 |
23andMe | rs797044891 |
SNPshot | rs797044891 |
SNPdbe | rs797044891 |
MSV3d | rs797044891 |
GWAS Ctlg | rs797044891 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044891(A;A) |
Alt | rs797044891(A;A) |
Reference | Rs797044891(G;G) |
Significance | Probable-Pathogenic |
Disease | Inborn genetic diseases |
Variation | info |
Gene | TIMM50 |
CLNDBN | Inborn genetic diseases |
Reversed | 0 |
HGVS | NC_000019.9:g.39978809G>A |
CLNSRC | |
CLNACC | RCV000190713.1, |