rs786204477
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(D;D) | 0 | common genotype |
Make rs786204477(-;TGGCTGGCATGA) |
Make rs786204477(TGGCTGGCATGA;TGGCTGGCATGA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 119026016 |
Gene | SLC37A4 |
is a | snp |
is | mentioned by |
dbSNP | rs786204477 |
dbSNP (classic) | rs786204477 |
ClinGen | rs786204477 |
ebi | rs786204477 |
HLI | rs786204477 |
Exac | rs786204477 |
Gnomad | rs786204477 |
Varsome | rs786204477 |
LitVar | rs786204477 |
Map | rs786204477 |
PheGenI | rs786204477 |
Biobank | rs786204477 |
1000 genomes | rs786204477 |
hgdp | rs786204477 |
ensembl | rs786204477 |
geneview | rs786204477 |
scholar | rs786204477 |
rs786204477 | |
pharmgkb | rs786204477 |
gwascentral | rs786204477 |
openSNP | rs786204477 |
23andMe | rs786204477 |
SNPshot | rs786204477 |
SNPdbe | rs786204477 |
MSV3d | rs786204477 |
GWAS Ctlg | rs786204477 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204477(TGGCTGGCATGA;TGGCTGGCATGA) |
Alt | rs786204477(TGGCTGGCATGA;TGGCTGGCATGA) |
Reference | Rs786204477(-;-) |
Significance | Probable-Pathogenic |
Disease | Glucose-6-phosphate transport defect |
Variation | info |
Gene | SLC37A4 |
CLNDBN | Glucose-6-phosphate transport defect |
Reversed | 1 |
HGVS | NC_000011.9:g.118896727_118896738dupTCATGCCAGCCA |
CLNSRC | Counsyl |
CLNACC | RCV000169130.1, |