rs3026906
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs3026906(C;T) |
Make rs3026906(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 21220008 |
Gene | ECE1 |
is a | snp |
is | mentioned by |
dbSNP | rs3026906 |
dbSNP (classic) | rs3026906 |
ClinGen | rs3026906 |
ebi | rs3026906 |
HLI | rs3026906 |
Exac | rs3026906 |
Gnomad | rs3026906 |
Varsome | rs3026906 |
LitVar | rs3026906 |
Map | rs3026906 |
PheGenI | rs3026906 |
Biobank | rs3026906 |
1000 genomes | rs3026906 |
hgdp | rs3026906 |
ensembl | rs3026906 |
geneview | rs3026906 |
scholar | rs3026906 |
rs3026906 | |
pharmgkb | rs3026906 |
gwascentral | rs3026906 |
openSNP | rs3026906 |
23andMe | rs3026906 |
SNPshot | rs3026906 |
SNPdbe | rs3026906 |
MSV3d | rs3026906 |
GWAS Ctlg | rs3026906 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs3026906(T;T) |
Alt | rs3026906(T;T) |
Reference | Rs3026906(C;C) |
Significance | Pathogenic |
Disease | Hirschsprung disease |
Variation | info |
Gene | ECE1 |
CLNDBN | Hirschsprung disease, cardiac defects, and autonomic dysfunction |
Reversed | 1 |
HGVS | NC_000001.10:g.21546501G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009704.4, |