rs749345054
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs749345054(G;G) |
Make rs749345054(G;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 100989439 |
Gene | C10orf2, MRPL43, TWNK |
is a | snp |
is | mentioned by |
dbSNP | rs749345054 |
dbSNP (classic) | rs749345054 |
ClinGen | rs749345054 |
ebi | rs749345054 |
HLI | rs749345054 |
Exac | rs749345054 |
Gnomad | rs749345054 |
Varsome | rs749345054 |
LitVar | rs749345054 |
Map | rs749345054 |
PheGenI | rs749345054 |
Biobank | rs749345054 |
1000 genomes | rs749345054 |
hgdp | rs749345054 |
ensembl | rs749345054 |
geneview | rs749345054 |
scholar | rs749345054 |
rs749345054 | |
pharmgkb | rs749345054 |
gwascentral | rs749345054 |
openSNP | rs749345054 |
23andMe | rs749345054 |
SNPshot | rs749345054 |
SNPdbe | rs749345054 |
MSV3d | rs749345054 |
GWAS Ctlg | rs749345054 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs749345054(G;G) |
Alt | rs749345054(G;G) |
Reference | Rs749345054(T;T) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | MRPL43 C10orf2 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000010.10:g.102749196T>G |
CLNSRC | |
CLNACC | RCV000196072.1, |