rs751952525
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs751952525(-;G) |
Make rs751952525(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 201626118 |
Gene | TMEM237 |
is a | snp |
is | mentioned by |
dbSNP | rs751952525 |
dbSNP (classic) | rs751952525 |
ClinGen | rs751952525 |
ebi | rs751952525 |
HLI | rs751952525 |
Exac | rs751952525 |
Gnomad | rs751952525 |
Varsome | rs751952525 |
LitVar | rs751952525 |
Map | rs751952525 |
PheGenI | rs751952525 |
Biobank | rs751952525 |
1000 genomes | rs751952525 |
hgdp | rs751952525 |
ensembl | rs751952525 |
geneview | rs751952525 |
scholar | rs751952525 |
rs751952525 | |
pharmgkb | rs751952525 |
gwascentral | rs751952525 |
openSNP | rs751952525 |
23andMe | rs751952525 |
SNPshot | rs751952525 |
SNPdbe | rs751952525 |
MSV3d | rs751952525 |
GWAS Ctlg | rs751952525 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs751952525(G;G) |
Alt | rs751952525(G;G) |
Reference | Rs751952525(-;-) |
Significance | Pathogenic |
Disease | Joubert syndrome 14 |
Variation | info |
Gene | TMEM237 |
CLNDBN | Joubert syndrome 14 |
Reversed | 0 |
HGVS | NC_000002.11:g.202490842dupG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024181.4, |