rs3741040
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs3741040(C;T) |
Make rs3741040(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 10500245 |
Gene | AMPD3 |
is a | snp |
is | mentioned by |
dbSNP | rs3741040 |
dbSNP (classic) | rs3741040 |
ClinGen | rs3741040 |
ebi | rs3741040 |
HLI | rs3741040 |
Exac | rs3741040 |
Gnomad | rs3741040 |
Varsome | rs3741040 |
LitVar | rs3741040 |
Map | rs3741040 |
PheGenI | rs3741040 |
Biobank | rs3741040 |
1000 genomes | rs3741040 |
hgdp | rs3741040 |
ensembl | rs3741040 |
geneview | rs3741040 |
scholar | rs3741040 |
rs3741040 | |
pharmgkb | rs3741040 |
gwascentral | rs3741040 |
openSNP | rs3741040 |
23andMe | rs3741040 |
SNPshot | rs3741040 |
SNPdbe | rs3741040 |
MSV3d | rs3741040 |
GWAS Ctlg | rs3741040 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs3741040(T;T) |
Alt | rs3741040(T;T) |
Reference | Rs3741040(C;C) |
Significance | Other |
Disease | Erythrocyte AMP deaminase deficiency |
Variation | info |
Gene | AMPD3 |
CLNDBN | Erythrocyte AMP deaminase deficiency |
Reversed | 0 |
HGVS | NC_000011.9:g.10521792C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019932.29, |