rs121907889
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121907889(A;A) |
Make rs121907889(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 42963149 |
Gene | CNPY3-GNMT, GNMT |
is a | snp |
is | mentioned by |
dbSNP | rs121907889 |
dbSNP (classic) | rs121907889 |
ClinGen | rs121907889 |
ebi | rs121907889 |
HLI | rs121907889 |
Exac | rs121907889 |
Gnomad | rs121907889 |
Varsome | rs121907889 |
LitVar | rs121907889 |
Map | rs121907889 |
PheGenI | rs121907889 |
Biobank | rs121907889 |
1000 genomes | rs121907889 |
hgdp | rs121907889 |
ensembl | rs121907889 |
geneview | rs121907889 |
scholar | rs121907889 |
rs121907889 | |
pharmgkb | rs121907889 |
gwascentral | rs121907889 |
openSNP | rs121907889 |
23andMe | rs121907889 |
SNPshot | rs121907889 |
SNPdbe | rs121907889 |
MSV3d | rs121907889 |
GWAS Ctlg | rs121907889 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121907889(A;A) |
Alt | rs121907889(A;A) |
Reference | Rs121907889(C;C) |
Significance | Pathogenic |
Disease | Glycine N-methyltransferase deficiency |
Variation | info |
Gene | CNPY3-GNMT GNMT |
CLNDBN | Glycine N-methyltransferase deficiency |
Reversed | 0 |
HGVS | NC_000006.11:g.42930887C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000004387.3, |