rs587776972
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs587776972(C;C) |
Make rs587776972(C;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 47073814 |
Gene | TTC7A |
is a | snp |
is | mentioned by |
dbSNP | rs587776972 |
dbSNP (classic) | rs587776972 |
ClinGen | rs587776972 |
ebi | rs587776972 |
HLI | rs587776972 |
Exac | rs587776972 |
Gnomad | rs587776972 |
Varsome | rs587776972 |
LitVar | rs587776972 |
Map | rs587776972 |
PheGenI | rs587776972 |
Biobank | rs587776972 |
1000 genomes | rs587776972 |
hgdp | rs587776972 |
ensembl | rs587776972 |
geneview | rs587776972 |
scholar | rs587776972 |
rs587776972 | |
pharmgkb | rs587776972 |
gwascentral | rs587776972 |
openSNP | rs587776972 |
23andMe | rs587776972 |
SNPshot | rs587776972 |
SNPdbe | rs587776972 |
MSV3d | rs587776972 |
GWAS Ctlg | rs587776972 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776972(C;C) |
Alt | rs587776972(C;C) |
Reference | Rs587776972(T;T) |
Significance | Pathogenic |
Disease | Multiple gastrointestinal atresias not provided |
Variation | info |
Gene | TTC7A |
CLNDBN | Multiple gastrointestinal atresias not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.47300953T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000043554.3, RCV000432704.1, |