rs74315417
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs74315417(A;G) |
Make rs74315417(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 5302566 |
Gene | PROKR2 |
is a | snp |
is | mentioned by |
dbSNP | rs74315417 |
dbSNP (classic) | rs74315417 |
ClinGen | rs74315417 |
ebi | rs74315417 |
HLI | rs74315417 |
Exac | rs74315417 |
Gnomad | rs74315417 |
Varsome | rs74315417 |
LitVar | rs74315417 |
Map | rs74315417 |
PheGenI | rs74315417 |
Biobank | rs74315417 |
1000 genomes | rs74315417 |
hgdp | rs74315417 |
ensembl | rs74315417 |
geneview | rs74315417 |
scholar | rs74315417 |
rs74315417 | |
pharmgkb | rs74315417 |
gwascentral | rs74315417 |
openSNP | rs74315417 |
23andMe | rs74315417 |
SNPshot | rs74315417 |
SNPdbe | rs74315417 |
MSV3d | rs74315417 |
GWAS Ctlg | rs74315417 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74315417(C;C) rs74315417(G;G) |
Alt | rs74315417(C;C) rs74315417(G;G) |
Reference | Rs74315417(A;A) |
Significance | Pathogenic |
Disease | Kallmann syndrome 3 |
Variation | info |
Gene | PROKR2 |
CLNDBN | Kallmann syndrome 3 |
Reversed | 1 |
HGVS | NC_000020.10:g.5283212T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000022407.4, |