rs118203897
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs118203897(A;G) |
Make rs118203897(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 21654653 |
Gene | LDHB |
is a | snp |
is | mentioned by |
dbSNP | rs118203897 |
dbSNP (classic) | rs118203897 |
ClinGen | rs118203897 |
ebi | rs118203897 |
HLI | rs118203897 |
Exac | rs118203897 |
Gnomad | rs118203897 |
Varsome | rs118203897 |
LitVar | rs118203897 |
Map | rs118203897 |
PheGenI | rs118203897 |
Biobank | rs118203897 |
1000 genomes | rs118203897 |
hgdp | rs118203897 |
ensembl | rs118203897 |
geneview | rs118203897 |
scholar | rs118203897 |
rs118203897 | |
pharmgkb | rs118203897 |
gwascentral | rs118203897 |
openSNP | rs118203897 |
23andMe | rs118203897 |
SNPshot | rs118203897 |
SNPdbe | rs118203897 |
MSV3d | rs118203897 |
GWAS Ctlg | rs118203897 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118203897(G;G) |
Alt | rs118203897(G;G) |
Reference | Rs118203897(A;A) |
Significance | Other |
Disease | Lactate dehydrogenase B deficiency |
Variation | info |
Gene | LDHB |
CLNDBN | Lactate dehydrogenase B deficiency |
Reversed | 1 |
HGVS | NC_000012.11:g.21807587T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015665.26, |