rs749837282
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs749837282(A;A) |
Make rs749837282(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 14130957 |
Gene | TMEM43 |
is a | snp |
is | mentioned by |
dbSNP | rs749837282 |
dbSNP (classic) | rs749837282 |
ClinGen | rs749837282 |
ebi | rs749837282 |
HLI | rs749837282 |
Exac | rs749837282 |
Gnomad | rs749837282 |
Varsome | rs749837282 |
LitVar | rs749837282 |
Map | rs749837282 |
PheGenI | rs749837282 |
Biobank | rs749837282 |
1000 genomes | rs749837282 |
hgdp | rs749837282 |
ensembl | rs749837282 |
geneview | rs749837282 |
scholar | rs749837282 |
rs749837282 | |
pharmgkb | rs749837282 |
gwascentral | rs749837282 |
openSNP | rs749837282 |
23andMe | rs749837282 |
SNPshot | rs749837282 |
SNPdbe | rs749837282 |
MSV3d | rs749837282 |
GWAS Ctlg | rs749837282 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs749837282(A;A) |
Alt | rs749837282(A;A) |
Reference | Rs749837282(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | TMEM43 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000003.11:g.14172457G>A |
CLNSRC | |
CLNACC | RCV000183948.2, |