rs121912479
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121912479(G;T) |
Make rs121912479(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 18407267 |
Gene | LDHA |
is a | snp |
is | mentioned by |
dbSNP | rs121912479 |
dbSNP (classic) | rs121912479 |
ClinGen | rs121912479 |
ebi | rs121912479 |
HLI | rs121912479 |
Exac | rs121912479 |
Gnomad | rs121912479 |
Varsome | rs121912479 |
LitVar | rs121912479 |
Map | rs121912479 |
PheGenI | rs121912479 |
Biobank | rs121912479 |
1000 genomes | rs121912479 |
hgdp | rs121912479 |
ensembl | rs121912479 |
geneview | rs121912479 |
scholar | rs121912479 |
rs121912479 | |
pharmgkb | rs121912479 |
gwascentral | rs121912479 |
openSNP | rs121912479 |
23andMe | rs121912479 |
SNPshot | rs121912479 |
SNPdbe | rs121912479 |
MSV3d | rs121912479 |
GWAS Ctlg | rs121912479 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121912479(T;T) |
Alt | rs121912479(T;T) |
Reference | Rs121912479(G;G) |
Significance | Pathogenic |
Disease | Glycogen storage disease XI |
Variation | info |
Gene | LDHA |
CLNDBN | Glycogen storage disease XI |
Reversed | 0 |
HGVS | NC_000011.9:g.18428814G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015668.22, |