rs1801710
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common on affy axiom data |
Make rs1801710(A;A) |
Make rs1801710(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 77918405 |
Gene | EDNRB |
is a | snp |
is | mentioned by |
dbSNP | rs1801710 |
dbSNP (classic) | rs1801710 |
ClinGen | rs1801710 |
ebi | rs1801710 |
HLI | rs1801710 |
Exac | rs1801710 |
Gnomad | rs1801710 |
Varsome | rs1801710 |
LitVar | rs1801710 |
Map | rs1801710 |
PheGenI | rs1801710 |
Biobank | rs1801710 |
1000 genomes | rs1801710 |
hgdp | rs1801710 |
ensembl | rs1801710 |
geneview | rs1801710 |
scholar | rs1801710 |
rs1801710 | |
pharmgkb | rs1801710 |
gwascentral | rs1801710 |
openSNP | rs1801710 |
23andMe | rs1801710 |
SNPshot | rs1801710 |
SNPdbe | rs1801710 |
MSV3d | rs1801710 |
GWAS Ctlg | rs1801710 |
GMAF | 0.004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1801710(A;A) |
Alt | rs1801710(A;A) |
Reference | Rs1801710(G;G) |
Significance | Other |
Disease | Hirschsprung disease 2 not specified not provided Waardenburg syndrome Hirschsprung Disease |
Variation | info |
Gene | EDNRB |
CLNDBN | Hirschsprung disease 2 not specified not provided Waardenburg syndrome Hirschsprung Disease, Recessive |
Reversed | 1 |
HGVS | NC_000013.10:g.78492540C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000018117.3, RCV000216329.2, RCV000224294.1, RCV000293473.1, RCV000350820.1, |