rs793888505
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs793888505(G;T) |
Make rs793888505(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 201629728 |
Gene | TMEM237 |
is a | snp |
is | mentioned by |
dbSNP | rs793888505 |
dbSNP (classic) | rs793888505 |
ClinGen | rs793888505 |
ebi | rs793888505 |
HLI | rs793888505 |
Exac | rs793888505 |
Gnomad | rs793888505 |
Varsome | rs793888505 |
LitVar | rs793888505 |
Map | rs793888505 |
PheGenI | rs793888505 |
Biobank | rs793888505 |
1000 genomes | rs793888505 |
hgdp | rs793888505 |
ensembl | rs793888505 |
geneview | rs793888505 |
scholar | rs793888505 |
rs793888505 | |
pharmgkb | rs793888505 |
gwascentral | rs793888505 |
openSNP | rs793888505 |
23andMe | rs793888505 |
SNPshot | rs793888505 |
SNPdbe | rs793888505 |
MSV3d | rs793888505 |
GWAS Ctlg | rs793888505 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs793888505(T;T) |
Alt | rs793888505(T;T) |
Reference | Rs793888505(G;G) |
Significance | Pathogenic |
Disease | Joubert syndrome 14 |
Variation | info |
Gene | TMEM237 |
CLNDBN | Joubert syndrome 14 |
Reversed | 1 |
HGVS | NC_000002.11:g.202494451C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024180.4, |