rs76466003
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs76466003(A;A) |
Make rs76466003(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 37815839 |
Gene | GDNF |
is a | snp |
is | mentioned by |
dbSNP | rs76466003 |
dbSNP (classic) | rs76466003 |
ClinGen | rs76466003 |
ebi | rs76466003 |
HLI | rs76466003 |
Exac | rs76466003 |
Gnomad | rs76466003 |
Varsome | rs76466003 |
LitVar | rs76466003 |
Map | rs76466003 |
PheGenI | rs76466003 |
Biobank | rs76466003 |
1000 genomes | rs76466003 |
hgdp | rs76466003 |
ensembl | rs76466003 |
geneview | rs76466003 |
scholar | rs76466003 |
rs76466003 | |
pharmgkb | rs76466003 |
gwascentral | rs76466003 |
openSNP | rs76466003 |
23andMe | rs76466003 |
SNPshot | rs76466003 |
SNPdbe | rs76466003 |
MSV3d | rs76466003 |
GWAS Ctlg | rs76466003 |
Merged from | Rs121918534 |
GMAF | 0.001377 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs76466003(A;A) |
Alt | rs76466003(A;A) |
Reference | Rs76466003(G;G) |
Significance | Other |
Disease | Hirschsprung disease 3 not specified Hirschsprung Disease |
Variation | info |
Gene | GDNF |
CLNDBN | Hirschsprung disease 3 not specified Hirschsprung Disease, Dominant |
Reversed | 1 |
HGVS | NC_000005.9:g.37815941C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000009304.2, RCV000252402.1, RCV000361051.1, |