rs775256658
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs775256658(A;G) |
Make rs775256658(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 8 |
Position | 93780985 |
Gene | TMEM67 |
is a | snp |
is | mentioned by |
dbSNP | rs775256658 |
dbSNP (classic) | rs775256658 |
ClinGen | rs775256658 |
ebi | rs775256658 |
HLI | rs775256658 |
Exac | rs775256658 |
Gnomad | rs775256658 |
Varsome | rs775256658 |
LitVar | rs775256658 |
Map | rs775256658 |
PheGenI | rs775256658 |
Biobank | rs775256658 |
1000 genomes | rs775256658 |
hgdp | rs775256658 |
ensembl | rs775256658 |
geneview | rs775256658 |
scholar | rs775256658 |
rs775256658 | |
pharmgkb | rs775256658 |
gwascentral | rs775256658 |
openSNP | rs775256658 |
23andMe | rs775256658 |
SNPshot | rs775256658 |
SNPdbe | rs775256658 |
MSV3d | rs775256658 |
GWAS Ctlg | rs775256658 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs775256658(G;G) |
Alt | rs775256658(G;G) |
Reference | Rs775256658(A;A) |
Significance | Pathogenic |
Disease | Joubert syndrome 6 |
Variation | info |
Gene | TMEM67 |
CLNDBN | Joubert syndrome 6 |
Reversed | 0 |
HGVS | NC_000008.10:g.94793213A>G |
CLNSRC | |
CLNACC | RCV000201705.1, |