rs758252808
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs758252808(A;A) |
Make rs758252808(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 137970206 |
Gene | HNMT |
is a | snp |
is | mentioned by |
dbSNP | rs758252808 |
dbSNP (classic) | rs758252808 |
ClinGen | rs758252808 |
ebi | rs758252808 |
HLI | rs758252808 |
Exac | rs758252808 |
Gnomad | rs758252808 |
Varsome | rs758252808 |
LitVar | rs758252808 |
Map | rs758252808 |
PheGenI | rs758252808 |
Biobank | rs758252808 |
1000 genomes | rs758252808 |
hgdp | rs758252808 |
ensembl | rs758252808 |
geneview | rs758252808 |
scholar | rs758252808 |
rs758252808 | |
pharmgkb | rs758252808 |
gwascentral | rs758252808 |
openSNP | rs758252808 |
23andMe | rs758252808 |
SNPshot | rs758252808 |
SNPdbe | rs758252808 |
MSV3d | rs758252808 |
GWAS Ctlg | rs758252808 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs758252808(A;A) |
Alt | rs758252808(A;A) |
Reference | Rs758252808(G;G) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | HNMT |
CLNDBN | Mental retardation, autosomal recessive 51 |
Reversed | 0 |
HGVS | NC_000002.11:g.138727776G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000203518.1, |