rs752434998
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TG;TG) | 0 | common in clinvar |
Make rs752434998(-;-) |
Make rs752434998(-;TG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 57198243 |
Gene | HESX1 |
is a | snp |
is | mentioned by |
dbSNP | rs752434998 |
dbSNP (classic) | rs752434998 |
ClinGen | rs752434998 |
ebi | rs752434998 |
HLI | rs752434998 |
Exac | rs752434998 |
Gnomad | rs752434998 |
Varsome | rs752434998 |
LitVar | rs752434998 |
Map | rs752434998 |
PheGenI | rs752434998 |
Biobank | rs752434998 |
1000 genomes | rs752434998 |
hgdp | rs752434998 |
ensembl | rs752434998 |
geneview | rs752434998 |
scholar | rs752434998 |
rs752434998 | |
pharmgkb | rs752434998 |
gwascentral | rs752434998 |
openSNP | rs752434998 |
23andMe | rs752434998 |
SNPshot | rs752434998 |
SNPdbe | rs752434998 |
MSV3d | rs752434998 |
GWAS Ctlg | rs752434998 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs752434998(-;-) |
Alt | rs752434998(-;-) |
Reference | Rs752434998(TG;TG) |
Significance | Pathogenic |
Disease | Septo-optic dysplasia sequence |
Variation | info |
Gene | HESX1 |
CLNDBN | Septo-optic dysplasia sequence |
Reversed | 0 |
HGVS | NC_000003.11:g.57232271_57232272delTG |
CLNSRC | |
CLNACC | RCV000178201.1, |