rs5352
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 3.5 | Hirschsprung disease? |
(A;G) | 2.2 | probably Hirschsprung disease carrier |
(G;G) | 0 | common |
Reference | GRCh38 38.1/142 |
Chromosome | 13 |
Position | 77901095 |
Gene | EDNRB, EDNRB-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs5352 |
dbSNP (classic) | rs5352 |
ClinGen | rs5352 |
ebi | rs5352 |
HLI | rs5352 |
Exac | rs5352 |
Gnomad | rs5352 |
Varsome | rs5352 |
LitVar | rs5352 |
Map | rs5352 |
PheGenI | rs5352 |
Biobank | rs5352 |
1000 genomes | rs5352 |
hgdp | rs5352 |
ensembl | rs5352 |
geneview | rs5352 |
scholar | rs5352 |
rs5352 | |
pharmgkb | rs5352 |
gwascentral | rs5352 |
openSNP | rs5352 |
23andMe | rs5352 |
SNPshot | rs5352 |
SNPdbe | rs5352 |
MSV3d | rs5352 |
GWAS Ctlg | rs5352 |
GMAF | 0.006887 |
Max Magnitude | 3.5 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | Rs5352(A;A) |
Alt | Rs5352(A;A) |
Reference | Rs5352(G;G) |
Significance | Other |
Disease | Hirschsprung disease 2 not specified Hirschsprung Disease |
Variation | info |
Gene | EDNRB EDNRB-AS1 |
CLNDBN | Hirschsprung disease 2 not specified Hirschsprung Disease, Recessive |
Reversed | 1 |
HGVS | NC_000013.10:g.78475230C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000018118.4, RCV000222856.2, RCV000356259.1, |