rs766453711
From SNPedia
Orientation | plus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 3 | Carrier of a homocystinuria mutation |
(I;I) | 0 | common genotype |
Make rs766453711(-;-) |
Make rs766453711(C;C) |
Reference | GRCh38.p7 38.3/151 |
Chromosome | 21 |
Position | 43063990 |
Gene | CBS |
is a | snp |
is | mentioned by |
dbSNP | rs766453711 |
dbSNP (classic) | rs766453711 |
ClinGen | rs766453711 |
ebi | rs766453711 |
HLI | rs766453711 |
Exac | rs766453711 |
Gnomad | rs766453711 |
Varsome | rs766453711 |
LitVar | rs766453711 |
Map | rs766453711 |
PheGenI | rs766453711 |
Biobank | rs766453711 |
1000 genomes | rs766453711 |
hgdp | rs766453711 |
ensembl | rs766453711 |
geneview | rs766453711 |
scholar | rs766453711 |
rs766453711 | |
pharmgkb | rs766453711 |
gwascentral | rs766453711 |
openSNP | rs766453711 |
23andMe | rs766453711 |
SNPshot | rs766453711 |
SNPdbe | rs766453711 |
MSV3d | rs766453711 |
GWAS Ctlg | rs766453711 |
Max Magnitude | 3 |
NM_000071.2(CBS):c.738delG (p.Lys247Serfs)