rs760830696
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs760830696(-;-) |
Make rs760830696(-;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 123686974 |
Gene | TCTN2 |
is a | snp |
is | mentioned by |
dbSNP | rs760830696 |
dbSNP (classic) | rs760830696 |
ClinGen | rs760830696 |
ebi | rs760830696 |
HLI | rs760830696 |
Exac | rs760830696 |
Gnomad | rs760830696 |
Varsome | rs760830696 |
LitVar | rs760830696 |
Map | rs760830696 |
PheGenI | rs760830696 |
Biobank | rs760830696 |
1000 genomes | rs760830696 |
hgdp | rs760830696 |
ensembl | rs760830696 |
geneview | rs760830696 |
scholar | rs760830696 |
rs760830696 | |
pharmgkb | rs760830696 |
gwascentral | rs760830696 |
openSNP | rs760830696 |
23andMe | rs760830696 |
SNPshot | rs760830696 |
SNPdbe | rs760830696 |
MSV3d | rs760830696 |
GWAS Ctlg | rs760830696 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs760830696(-;-) |
Alt | rs760830696(-;-) |
Reference | Rs760830696(C;C) |
Significance | Pathogenic |
Disease | Meckel syndrome type 8 not provided |
Variation | info |
Gene | TCTN2 |
CLNDBN | Meckel syndrome type 8 not provided |
Reversed | 0 |
HGVS | NC_000012.11:g.124171521delC |
CLNSRC | |
CLNACC | RCV000194845.1, RCV000338833.1, |