rs17855739
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs17855739(C;C) |
Make rs17855739(C;T) |
Make rs17855739(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 5831829 |
Gene | FUT6 |
is a | snp |
is | mentioned by |
dbSNP | rs17855739 |
dbSNP (classic) | rs17855739 |
ClinGen | rs17855739 |
ebi | rs17855739 |
HLI | rs17855739 |
Exac | rs17855739 |
Gnomad | rs17855739 |
Varsome | rs17855739 |
LitVar | rs17855739 |
Map | rs17855739 |
PheGenI | rs17855739 |
Biobank | rs17855739 |
1000 genomes | rs17855739 |
hgdp | rs17855739 |
ensembl | rs17855739 |
geneview | rs17855739 |
scholar | rs17855739 |
rs17855739 | |
pharmgkb | rs17855739 |
gwascentral | rs17855739 |
openSNP | rs17855739 |
23andMe | rs17855739 |
SNPshot | rs17855739 |
SNPdbe | rs17855739 |
MSV3d | rs17855739 |
GWAS Ctlg | rs17855739 |
GMAF | 0.1276 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs17855739(A;A) |
Alt | rs17855739(A;A) |
Reference | Rs17855739(G;G) |
Significance | Other |
Disease | Fucosyltransferase 6 deficiency |
Variation | info |
Gene | FUT6 |
CLNDBN | Fucosyltransferase 6 deficiency |
Reversed | 1 |
HGVS | NC_000019.9:g.5831840C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017626.27, |