rs548046212
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs548046212(C;T) |
Make rs548046212(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 51353275 |
Gene | ETFB |
is a | snp |
is | mentioned by |
dbSNP | rs548046212 |
dbSNP (classic) | rs548046212 |
ClinGen | rs548046212 |
ebi | rs548046212 |
HLI | rs548046212 |
Exac | rs548046212 |
Gnomad | rs548046212 |
Varsome | rs548046212 |
LitVar | rs548046212 |
Map | rs548046212 |
PheGenI | rs548046212 |
Biobank | rs548046212 |
1000 genomes | rs548046212 |
hgdp | rs548046212 |
ensembl | rs548046212 |
geneview | rs548046212 |
scholar | rs548046212 |
rs548046212 | |
pharmgkb | rs548046212 |
gwascentral | rs548046212 |
openSNP | rs548046212 |
23andMe | rs548046212 |
SNPshot | rs548046212 |
SNPdbe | rs548046212 |
MSV3d | rs548046212 |
GWAS Ctlg | rs548046212 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs548046212(A;A) rs548046212(T;T) |
Alt | rs548046212(A;A) rs548046212(T;T) |
Reference | Rs548046212(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | ETFB |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.51856529C>T |
CLNSRC | |
CLNACC | RCV000185880.1, |