rs116647652
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs116647652(C;T) |
Make rs116647652(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 8 |
Position | 93786285 |
Gene | TMEM67 |
is a | snp |
is | mentioned by |
dbSNP | rs116647652 |
dbSNP (classic) | rs116647652 |
ClinGen | rs116647652 |
ebi | rs116647652 |
HLI | rs116647652 |
Exac | rs116647652 |
Gnomad | rs116647652 |
Varsome | rs116647652 |
LitVar | rs116647652 |
Map | rs116647652 |
PheGenI | rs116647652 |
Biobank | rs116647652 |
1000 genomes | rs116647652 |
hgdp | rs116647652 |
ensembl | rs116647652 |
geneview | rs116647652 |
scholar | rs116647652 |
rs116647652 | |
pharmgkb | rs116647652 |
gwascentral | rs116647652 |
openSNP | rs116647652 |
23andMe | rs116647652 |
23andMe all | rs116647652 |
SNPshot | rs116647652 |
SNPdbe | rs116647652 |
MSV3d | rs116647652 |
GWAS Ctlg | rs116647652 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs116647652(A;A) rs116647652(T;T) |
Alt | rs116647652(A;A) rs116647652(T;T) |
Reference | Rs116647652(C;C) |
Significance | Pathogenic |
Disease | not specified Joubert syndrome 6 |
Variation | info |
Gene | TMEM67 |
CLNDBN | not specified Joubert syndrome 6 |
Reversed | 0 |
HGVS | NC_000008.10:g.94798513C>A; NC_000008.10:g.94798513C>T |
CLNSRC | |
CLNACC | RCV000429502.1, RCV000201701.1, |