rs747597620
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs747597620(C;C) |
Make rs747597620(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 126552037 |
Gene | ALDH7A1 |
is a | snp |
is | mentioned by |
dbSNP | rs747597620 |
dbSNP (classic) | rs747597620 |
ClinGen | rs747597620 |
ebi | rs747597620 |
HLI | rs747597620 |
Exac | rs747597620 |
Gnomad | rs747597620 |
Varsome | rs747597620 |
LitVar | rs747597620 |
Map | rs747597620 |
PheGenI | rs747597620 |
Biobank | rs747597620 |
1000 genomes | rs747597620 |
hgdp | rs747597620 |
ensembl | rs747597620 |
geneview | rs747597620 |
scholar | rs747597620 |
rs747597620 | |
pharmgkb | rs747597620 |
gwascentral | rs747597620 |
openSNP | rs747597620 |
23andMe | rs747597620 |
SNPshot | rs747597620 |
SNPdbe | rs747597620 |
MSV3d | rs747597620 |
GWAS Ctlg | rs747597620 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs747597620(C;C) |
Alt | rs747597620(C;C) |
Reference | Rs747597620(T;T) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | ALDH7A1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000005.9:g.125887729T>C |
CLNSRC | |
CLNACC | RCV000186746.1, |