rs142439525
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs142439525(C;T) |
Make rs142439525(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 5 |
Position | 142314268 |
Gene | SPRY4 |
is a | snp |
is | mentioned by |
dbSNP | rs142439525 |
dbSNP (classic) | rs142439525 |
ClinGen | rs142439525 |
ebi | rs142439525 |
HLI | rs142439525 |
Exac | rs142439525 |
Gnomad | rs142439525 |
Varsome | rs142439525 |
LitVar | rs142439525 |
Map | rs142439525 |
PheGenI | rs142439525 |
Biobank | rs142439525 |
1000 genomes | rs142439525 |
hgdp | rs142439525 |
ensembl | rs142439525 |
geneview | rs142439525 |
scholar | rs142439525 |
rs142439525 | |
pharmgkb | rs142439525 |
gwascentral | rs142439525 |
openSNP | rs142439525 |
23andMe | rs142439525 |
SNPshot | rs142439525 |
SNPdbe | rs142439525 |
MSV3d | rs142439525 |
GWAS Ctlg | rs142439525 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs142439525(T;T) |
Alt | rs142439525(T;T) |
Reference | Rs142439525(C;C) |
Significance | Pathogenic |
Disease | Hypogonadotropic hypogonadism 17 with or without anosmia |
Variation | info |
Gene | SPRY4 |
CLNDBN | Hypogonadotropic hypogonadism 17 with or without anosmia |
Reversed | 0 |
HGVS | NC_000005.9:g.141693833C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000043615.3, |