rs587779736
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587779736(A;A) |
Make rs587779736(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 8 |
Position | 93780626 |
Gene | TMEM67 |
is a | snp |
is | mentioned by |
dbSNP | rs587779736 |
dbSNP (classic) | rs587779736 |
ClinGen | rs587779736 |
ebi | rs587779736 |
HLI | rs587779736 |
Exac | rs587779736 |
Gnomad | rs587779736 |
Varsome | rs587779736 |
LitVar | rs587779736 |
Map | rs587779736 |
PheGenI | rs587779736 |
Biobank | rs587779736 |
1000 genomes | rs587779736 |
hgdp | rs587779736 |
ensembl | rs587779736 |
geneview | rs587779736 |
scholar | rs587779736 |
rs587779736 | |
pharmgkb | rs587779736 |
gwascentral | rs587779736 |
openSNP | rs587779736 |
23andMe | rs587779736 |
SNPshot | rs587779736 |
SNPdbe | rs587779736 |
MSV3d | rs587779736 |
GWAS Ctlg | rs587779736 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587779736(A;A) |
Alt | rs587779736(A;A) |
Reference | Rs587779736(G;G) |
Significance | Probable-Pathogenic |
Disease | Meckel-Gruber syndrome |
Variation | info |
Gene | TMEM67 |
CLNDBN | Meckel-Gruber syndrome |
Reversed | 0 |
HGVS | NC_000008.10:g.94792854G>A |
CLNSRC | |
CLNACC | RCV000114249.1, |