rs745756308
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs745756308(C;C) |
Make rs745756308(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 138013874 |
Gene | HNMT, LOC107985948 |
is a | snp |
is | mentioned by |
dbSNP | rs745756308 |
dbSNP (classic) | rs745756308 |
ClinGen | rs745756308 |
ebi | rs745756308 |
HLI | rs745756308 |
Exac | rs745756308 |
Gnomad | rs745756308 |
Varsome | rs745756308 |
LitVar | rs745756308 |
Map | rs745756308 |
PheGenI | rs745756308 |
Biobank | rs745756308 |
1000 genomes | rs745756308 |
hgdp | rs745756308 |
ensembl | rs745756308 |
geneview | rs745756308 |
scholar | rs745756308 |
rs745756308 | |
pharmgkb | rs745756308 |
gwascentral | rs745756308 |
openSNP | rs745756308 |
23andMe | rs745756308 |
SNPshot | rs745756308 |
SNPdbe | rs745756308 |
MSV3d | rs745756308 |
GWAS Ctlg | rs745756308 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs745756308(C;C) |
Alt | rs745756308(C;C) |
Reference | Rs745756308(T;T) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | LOC101928299 HNMT |
CLNDBN | Mental retardation, autosomal recessive 51 |
Reversed | 0 |
HGVS | NC_000002.11:g.138771444T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000203542.2, |