rs141090506
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs141090506(C;C) |
Make rs141090506(C;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 20 |
Position | 5314117 |
Gene | LOC728283, PROKR2 |
is a | snp |
is | mentioned by |
dbSNP | rs141090506 |
dbSNP (classic) | rs141090506 |
ClinGen | rs141090506 |
ebi | rs141090506 |
HLI | rs141090506 |
Exac | rs141090506 |
Gnomad | rs141090506 |
Varsome | rs141090506 |
LitVar | rs141090506 |
Map | rs141090506 |
PheGenI | rs141090506 |
Biobank | rs141090506 |
1000 genomes | rs141090506 |
hgdp | rs141090506 |
ensembl | rs141090506 |
geneview | rs141090506 |
scholar | rs141090506 |
rs141090506 | |
pharmgkb | rs141090506 |
gwascentral | rs141090506 |
openSNP | rs141090506 |
23andMe | rs141090506 |
SNPshot | rs141090506 |
SNPdbe | rs141090506 |
MSV3d | rs141090506 |
GWAS Ctlg | rs141090506 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs141090506(A;A) rs141090506(C;C) |
Alt | rs141090506(A;A) rs141090506(C;C) |
Reference | Rs141090506(G;G) |
Significance | Pathogenic |
Disease | Hypogonadotropic hypogonadism 3 without anosmia not specified Hypogonadism with anosmia not provided |
Variation | info |
Gene | LOC728283 PROKR2 |
CLNDBN | Hypogonadotropic hypogonadism 3 without anosmia not specified Hypogonadism with anosmia not provided |
Reversed | 0 |
HGVS | NC_000020.10:g.5294763G>A; NC_000020.10:g.5294763G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000144712.3, RCV000239076.1, RCV000345795.1, RCV000413366.1, |