rs121918608
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121918608(A;G) |
Make rs121918608(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 34292375 |
Gene | AHCY |
is a | snp |
is | mentioned by |
dbSNP | rs121918608 |
dbSNP (classic) | rs121918608 |
ClinGen | rs121918608 |
ebi | rs121918608 |
HLI | rs121918608 |
Exac | rs121918608 |
Gnomad | rs121918608 |
Varsome | rs121918608 |
LitVar | rs121918608 |
Map | rs121918608 |
PheGenI | rs121918608 |
Biobank | rs121918608 |
1000 genomes | rs121918608 |
hgdp | rs121918608 |
ensembl | rs121918608 |
geneview | rs121918608 |
scholar | rs121918608 |
rs121918608 | |
pharmgkb | rs121918608 |
gwascentral | rs121918608 |
openSNP | rs121918608 |
23andMe | rs121918608 |
SNPshot | rs121918608 |
SNPdbe | rs121918608 |
MSV3d | rs121918608 |
GWAS Ctlg | rs121918608 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918608(G;G) |
Alt | rs121918608(G;G) |
Reference | Rs121918608(A;A) |
Significance | Pathogenic |
Disease | Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency not provided |
Variation | info |
Gene | AHCY |
CLNDBN | Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency not provided |
Reversed | 1 |
HGVS | NC_000020.10:g.32880181T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013819.24, RCV000224240.1, |