rs28939719
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs28939719(C;C) |
Make rs28939719(C;T) |
Reference | GRCh37 37.1/131 |
Chromosome | 19 |
Position | 919563 |
Gene | KISS1R |
is a | snp |
is | mentioned by |
dbSNP | rs28939719 |
dbSNP (classic) | rs28939719 |
ClinGen | rs28939719 |
ebi | rs28939719 |
HLI | rs28939719 |
Exac | rs28939719 |
Gnomad | rs28939719 |
Varsome | rs28939719 |
LitVar | rs28939719 |
Map | rs28939719 |
PheGenI | rs28939719 |
Biobank | rs28939719 |
1000 genomes | rs28939719 |
hgdp | rs28939719 |
ensembl | rs28939719 |
geneview | rs28939719 |
scholar | rs28939719 |
rs28939719 | |
pharmgkb | rs28939719 |
gwascentral | rs28939719 |
openSNP | rs28939719 |
23andMe | rs28939719 |
SNPshot | rs28939719 |
SNPdbe | rs28939719 |
MSV3d | rs28939719 |
GWAS Ctlg | rs28939719 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28939719(C;C) |
Alt | rs28939719(C;C) |
Reference | Rs28939719(T;T) |
Significance | Pathogenic |
Disease | Hypogonadotropic hypogonadism 8 without anosmia |
Variation | info |
Gene | KISS1R |
CLNDBN | Hypogonadotropic hypogonadism 8 without anosmia |
Reversed | 0 |
HGVS | NC_000019.9:g.919563T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000030878.3, |