rs796051999
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GT;GT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TG;TG) | 0 | common in clinvar |
Make rs796051999(-;-) |
Make rs796051999(-;TG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 45508811 |
Gene | MMACHC |
is a | snp |
is | mentioned by |
dbSNP | rs796051999 |
dbSNP (classic) | rs796051999 |
ClinGen | rs796051999 |
ebi | rs796051999 |
HLI | rs796051999 |
Exac | rs796051999 |
Gnomad | rs796051999 |
Varsome | rs796051999 |
LitVar | rs796051999 |
Map | rs796051999 |
PheGenI | rs796051999 |
Biobank | rs796051999 |
1000 genomes | rs796051999 |
hgdp | rs796051999 |
ensembl | rs796051999 |
geneview | rs796051999 |
scholar | rs796051999 |
rs796051999 | |
pharmgkb | rs796051999 |
gwascentral | rs796051999 |
openSNP | rs796051999 |
23andMe | rs796051999 |
SNPshot | rs796051999 |
SNPdbe | rs796051999 |
MSV3d | rs796051999 |
GWAS Ctlg | rs796051999 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796051999(-;-) Rs796051999(GT;GT) |
Alt | rs796051999(-;-) Rs796051999(GT;GT) |
Reference | Rs796051999(TG;TG) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | MMACHC |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.45974483_45974484delTG |
CLNSRC | |
CLNACC | RCV000186034.1, |