rs145221454
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs145221454(C;C) |
Make rs145221454(C;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 57098300 |
Gene | IL17RD |
is a | snp |
is | mentioned by |
dbSNP | rs145221454 |
dbSNP (classic) | rs145221454 |
ClinGen | rs145221454 |
ebi | rs145221454 |
HLI | rs145221454 |
Exac | rs145221454 |
Gnomad | rs145221454 |
Varsome | rs145221454 |
LitVar | rs145221454 |
Map | rs145221454 |
PheGenI | rs145221454 |
Biobank | rs145221454 |
1000 genomes | rs145221454 |
hgdp | rs145221454 |
ensembl | rs145221454 |
geneview | rs145221454 |
scholar | rs145221454 |
rs145221454 | |
pharmgkb | rs145221454 |
gwascentral | rs145221454 |
openSNP | rs145221454 |
23andMe | rs145221454 |
SNPshot | rs145221454 |
SNPdbe | rs145221454 |
MSV3d | rs145221454 |
GWAS Ctlg | rs145221454 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs145221454(A;A) rs145221454(C;C) |
Alt | rs145221454(A;A) rs145221454(C;C) |
Reference | Rs145221454(G;G) |
Significance | Pathogenic |
Disease | Hypogonadotropic hypogonadism 18 with anosmia |
Variation | info |
Gene | IL17RD |
CLNDBN | Hypogonadotropic hypogonadism 18 with anosmia |
Reversed | 0 |
HGVS | NC_000003.11:g.57132328G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000043612.2, |