rs575112817
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs575112817(A;G) |
Make rs575112817(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 57198751 |
Gene | HESX1 |
is a | snp |
is | mentioned by |
dbSNP | rs575112817 |
dbSNP (classic) | rs575112817 |
ClinGen | rs575112817 |
ebi | rs575112817 |
HLI | rs575112817 |
Exac | rs575112817 |
Gnomad | rs575112817 |
Varsome | rs575112817 |
LitVar | rs575112817 |
Map | rs575112817 |
PheGenI | rs575112817 |
Biobank | rs575112817 |
1000 genomes | rs575112817 |
hgdp | rs575112817 |
ensembl | rs575112817 |
geneview | rs575112817 |
scholar | rs575112817 |
rs575112817 | |
pharmgkb | rs575112817 |
gwascentral | rs575112817 |
openSNP | rs575112817 |
23andMe | rs575112817 |
SNPshot | rs575112817 |
SNPdbe | rs575112817 |
MSV3d | rs575112817 |
GWAS Ctlg | rs575112817 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs575112817(G;G) rs575112817(T;T) |
Alt | rs575112817(G;G) rs575112817(T;T) |
Reference | Rs575112817(A;A) |
Significance | Pathogenic |
Disease | Pituitary hormone deficiency |
Variation | info |
Gene | HESX1 |
CLNDBN | Pituitary hormone deficiency, combined 5 |
Reversed | 0 |
HGVS | NC_000003.11:g.57232779A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008137.3, |