rs864309646
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs864309646(C;G) |
Make rs864309646(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 135699441 |
Gene | KCNT1, SOHLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs864309646 |
dbSNP (classic) | rs864309646 |
ClinGen | rs864309646 |
ebi | rs864309646 |
HLI | rs864309646 |
Exac | rs864309646 |
Gnomad | rs864309646 |
Varsome | rs864309646 |
LitVar | rs864309646 |
Map | rs864309646 |
PheGenI | rs864309646 |
Biobank | rs864309646 |
1000 genomes | rs864309646 |
hgdp | rs864309646 |
ensembl | rs864309646 |
geneview | rs864309646 |
scholar | rs864309646 |
rs864309646 | |
pharmgkb | rs864309646 |
gwascentral | rs864309646 |
openSNP | rs864309646 |
23andMe | rs864309646 |
SNPshot | rs864309646 |
SNPdbe | rs864309646 |
MSV3d | rs864309646 |
GWAS Ctlg | rs864309646 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309646(G;G) |
Alt | rs864309646(G;G) |
Reference | Rs864309646(C;C) |
Significance | Probable-Pathogenic |
Disease | Nonsyndromic hypergonadotropic hypogonadism |
Variation | info |
Gene | SOHLH1 |
CLNDBN | Nonsyndromic hypergonadotropic hypogonadism |
Reversed | 1 |
HGVS | NC_000009.11:g.138591287G>C |
CLNSRC | Baylor College of Medicine |
CLNACC | RCV000203231.1, |