rs74315418
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs74315418(A;A) |
Make rs74315418(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 20 |
Position | 5314116 |
Gene | LOC728283, PROKR2 |
is a | snp |
is | mentioned by |
dbSNP | rs74315418 |
dbSNP (classic) | rs74315418 |
ClinGen | rs74315418 |
ebi | rs74315418 |
HLI | rs74315418 |
Exac | rs74315418 |
Gnomad | rs74315418 |
Varsome | rs74315418 |
LitVar | rs74315418 |
Map | rs74315418 |
PheGenI | rs74315418 |
Biobank | rs74315418 |
1000 genomes | rs74315418 |
hgdp | rs74315418 |
ensembl | rs74315418 |
geneview | rs74315418 |
scholar | rs74315418 |
rs74315418 | |
pharmgkb | rs74315418 |
gwascentral | rs74315418 |
openSNP | rs74315418 |
23andMe | rs74315418 |
SNPshot | rs74315418 |
SNPdbe | rs74315418 |
MSV3d | rs74315418 |
GWAS Ctlg | rs74315418 |
GMAF | 0.002755 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74315418(A;A) rs74315418(T;T) |
Alt | rs74315418(A;A) rs74315418(T;T) |
Reference | Rs74315418(G;G) |
Significance | Pathogenic |
Disease | Hypogonadism with anosmia Kallmann syndrome 3 not specified |
Variation | info |
Gene | PROKR2 LOC728283 |
CLNDBN | Hypogonadism with anosmia Kallmann syndrome 3 not specified |
Reversed | 1 |
HGVS | NC_000020.10:g.5294762C>A; NC_000020.10:g.5294762C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000305149.1, RCV000022408.5, RCV000323645.1, |