rs281865427
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TC;TC) | 0 | common in clinvar |
Make rs281865427(AA;AA) |
Make rs281865427(AA;TC) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 67754305 |
Gene | GNRHR |
is a | snp |
is | mentioned by |
dbSNP | rs281865427 |
dbSNP (classic) | rs281865427 |
ClinGen | rs281865427 |
ebi | rs281865427 |
HLI | rs281865427 |
Exac | rs281865427 |
Gnomad | rs281865427 |
Varsome | rs281865427 |
LitVar | rs281865427 |
Map | rs281865427 |
PheGenI | rs281865427 |
Biobank | rs281865427 |
1000 genomes | rs281865427 |
hgdp | rs281865427 |
ensembl | rs281865427 |
geneview | rs281865427 |
scholar | rs281865427 |
rs281865427 | |
pharmgkb | rs281865427 |
gwascentral | rs281865427 |
openSNP | rs281865427 |
23andMe | rs281865427 |
SNPshot | rs281865427 |
SNPdbe | rs281865427 |
MSV3d | rs281865427 |
GWAS Ctlg | rs281865427 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865427(AA;AA) |
Alt | rs281865427(AA;AA) |
Reference | Rs281865427(TC;TC) |
Significance | Pathogenic |
Disease | Hypogonadotropic hypogonadism 7 with or without anosmia |
Variation | info |
Gene | GNRHR |
CLNDBN | Hypogonadotropic hypogonadism 7 with or without anosmia |
Reversed | 1 |
HGVS | NC_000004.11:g.68620023_68620024delGAinsTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000030919.29, |