rs184758350
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs184758350(G;G) |
Make rs184758350(G;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 57110230 |
Gene | IL17RD |
is a | snp |
is | mentioned by |
dbSNP | rs184758350 |
dbSNP (classic) | rs184758350 |
ClinGen | rs184758350 |
ebi | rs184758350 |
HLI | rs184758350 |
Exac | rs184758350 |
Gnomad | rs184758350 |
Varsome | rs184758350 |
LitVar | rs184758350 |
Map | rs184758350 |
PheGenI | rs184758350 |
Biobank | rs184758350 |
1000 genomes | rs184758350 |
hgdp | rs184758350 |
ensembl | rs184758350 |
geneview | rs184758350 |
scholar | rs184758350 |
rs184758350 | |
pharmgkb | rs184758350 |
gwascentral | rs184758350 |
openSNP | rs184758350 |
23andMe | rs184758350 |
SNPshot | rs184758350 |
SNPdbe | rs184758350 |
MSV3d | rs184758350 |
GWAS Ctlg | rs184758350 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs184758350(G;G) |
Alt | rs184758350(G;G) |
Reference | Rs184758350(T;T) |
Significance | Pathogenic |
Disease | Hypogonadotropic hypogonadism 18 with anosmia Delayed puberty not specified |
Variation | info |
Gene | IL17RD |
CLNDBN | Hypogonadotropic hypogonadism 18 with anosmia Delayed puberty not specified |
Reversed | 0 |
HGVS | NC_000003.11:g.57144258T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000043609.2, RCV000156943.1, RCV000442073.1, |