rs199538589
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199538589(A;A) |
Make rs199538589(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 128268254 |
Gene | HS6ST1 |
is a | snp |
is | mentioned by |
dbSNP | rs199538589 |
dbSNP (classic) | rs199538589 |
ClinGen | rs199538589 |
ebi | rs199538589 |
HLI | rs199538589 |
Exac | rs199538589 |
Gnomad | rs199538589 |
Varsome | rs199538589 |
LitVar | rs199538589 |
Map | rs199538589 |
PheGenI | rs199538589 |
Biobank | rs199538589 |
1000 genomes | rs199538589 |
hgdp | rs199538589 |
ensembl | rs199538589 |
geneview | rs199538589 |
scholar | rs199538589 |
rs199538589 | |
pharmgkb | rs199538589 |
gwascentral | rs199538589 |
openSNP | rs199538589 |
23andMe | rs199538589 |
SNPshot | rs199538589 |
SNPdbe | rs199538589 |
MSV3d | rs199538589 |
GWAS Ctlg | rs199538589 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199538589(A;A) |
Alt | rs199538589(A;A) |
Reference | Rs199538589(G;G) |
Significance | Probable-Pathogenic |
Disease | Hypogonadotrophic hypogonadism not specified |
Variation | info |
Gene | HS6ST1 |
CLNDBN | Hypogonadotrophic hypogonadism not specified |
Reversed | 0 |
HGVS | NC_000002.11:g.129025828G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000156968.1, RCV000455725.1, |