rs797046040
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797046040(-;T) |
Make rs797046040(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 123671558 |
Gene | TCTN2 |
is a | snp |
is | mentioned by |
dbSNP | rs797046040 |
dbSNP (classic) | rs797046040 |
ClinGen | rs797046040 |
ebi | rs797046040 |
HLI | rs797046040 |
Exac | rs797046040 |
Gnomad | rs797046040 |
Varsome | rs797046040 |
LitVar | rs797046040 |
Map | rs797046040 |
PheGenI | rs797046040 |
Biobank | rs797046040 |
1000 genomes | rs797046040 |
hgdp | rs797046040 |
ensembl | rs797046040 |
geneview | rs797046040 |
scholar | rs797046040 |
rs797046040 | |
pharmgkb | rs797046040 |
gwascentral | rs797046040 |
openSNP | rs797046040 |
23andMe | rs797046040 |
SNPshot | rs797046040 |
SNPdbe | rs797046040 |
MSV3d | rs797046040 |
GWAS Ctlg | rs797046040 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797046040(T;T) |
Alt | rs797046040(T;T) |
Reference | Rs797046040(-;-) |
Significance | Pathogenic |
Disease | Meckel syndrome type 8 |
Variation | info |
Gene | TCTN2 |
CLNDBN | Meckel syndrome type 8 |
Reversed | 0 |
HGVS | NC_000012.11:g.124156105dupT |
CLNSRC | |
CLNACC | RCV000192770.1, |