rs387907131
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs387907131(C;T) |
Make rs387907131(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 201640264 |
Gene | TMEM237 |
is a | snp |
is | mentioned by |
dbSNP | rs387907131 |
dbSNP (classic) | rs387907131 |
ClinGen | rs387907131 |
ebi | rs387907131 |
HLI | rs387907131 |
Exac | rs387907131 |
Gnomad | rs387907131 |
Varsome | rs387907131 |
LitVar | rs387907131 |
Map | rs387907131 |
PheGenI | rs387907131 |
Biobank | rs387907131 |
1000 genomes | rs387907131 |
hgdp | rs387907131 |
ensembl | rs387907131 |
geneview | rs387907131 |
scholar | rs387907131 |
rs387907131 | |
pharmgkb | rs387907131 |
gwascentral | rs387907131 |
openSNP | rs387907131 |
23andMe | rs387907131 |
SNPshot | rs387907131 |
SNPdbe | rs387907131 |
MSV3d | rs387907131 |
GWAS Ctlg | rs387907131 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387907131(T;T) |
Alt | rs387907131(T;T) |
Reference | Rs387907131(C;C) |
Significance | Pathogenic |
Disease | Joubert syndrome 14 |
Variation | info |
Gene | TMEM237 |
CLNDBN | Joubert syndrome 14 |
Reversed | 1 |
HGVS | NC_000002.11:g.202504987G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024182.4, |