rs74315416
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs74315416(G;G) |
Make rs74315416(G;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 20 |
Position | 5302677 |
Gene | PROKR2 |
is a | snp |
is | mentioned by |
dbSNP | rs74315416 |
dbSNP (classic) | rs74315416 |
ClinGen | rs74315416 |
ebi | rs74315416 |
HLI | rs74315416 |
Exac | rs74315416 |
Gnomad | rs74315416 |
Varsome | rs74315416 |
LitVar | rs74315416 |
Map | rs74315416 |
PheGenI | rs74315416 |
Biobank | rs74315416 |
1000 genomes | rs74315416 |
hgdp | rs74315416 |
ensembl | rs74315416 |
geneview | rs74315416 |
scholar | rs74315416 |
rs74315416 | |
pharmgkb | rs74315416 |
gwascentral | rs74315416 |
openSNP | rs74315416 |
23andMe | rs74315416 |
SNPshot | rs74315416 |
SNPdbe | rs74315416 |
MSV3d | rs74315416 |
GWAS Ctlg | rs74315416 |
GMAF | 0.001377 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74315416(G;G) |
Alt | rs74315416(G;G) |
Reference | Rs74315416(T;T) |
Significance | Pathogenic |
Disease | Kallmann syndrome 3 not specified Hypogonadism with anosmia |
Variation | info |
Gene | PROKR2 |
CLNDBN | Kallmann syndrome 3 not specified Hypogonadism with anosmia |
Reversed | 1 |
HGVS | NC_000020.10:g.5283323A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000022406.3, RCV000239273.1, RCV000334457.1, |