rs772437766
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs772437766(C;G) |
Make rs772437766(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 8 |
Position | 93755799 |
Gene | TMEM67 |
is a | snp |
is | mentioned by |
dbSNP | rs772437766 |
dbSNP (classic) | rs772437766 |
ClinGen | rs772437766 |
ebi | rs772437766 |
HLI | rs772437766 |
Exac | rs772437766 |
Gnomad | rs772437766 |
Varsome | rs772437766 |
LitVar | rs772437766 |
Map | rs772437766 |
PheGenI | rs772437766 |
Biobank | rs772437766 |
1000 genomes | rs772437766 |
hgdp | rs772437766 |
ensembl | rs772437766 |
geneview | rs772437766 |
scholar | rs772437766 |
rs772437766 | |
pharmgkb | rs772437766 |
gwascentral | rs772437766 |
openSNP | rs772437766 |
23andMe | rs772437766 |
SNPshot | rs772437766 |
SNPdbe | rs772437766 |
MSV3d | rs772437766 |
GWAS Ctlg | rs772437766 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs772437766(G;G) rs772437766(T;T) |
Alt | rs772437766(G;G) rs772437766(T;T) |
Reference | Rs772437766(C;C) |
Significance | Pathogenic |
Disease | Joubert syndrome 6 not provided |
Variation | info |
Gene | TMEM67 |
CLNDBN | Joubert syndrome 6 not provided |
Reversed | 0 |
HGVS | NC_000008.10:g.94768027C>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000201553.1, RCV000435911.1, |