rs398122412
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs398122412(-;-) |
Make rs398122412(-;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 148462618 |
Gene | MBD5 |
is a | snp |
is | mentioned by |
dbSNP | rs398122412 |
dbSNP (classic) | rs398122412 |
ClinGen | rs398122412 |
ebi | rs398122412 |
HLI | rs398122412 |
Exac | rs398122412 |
Gnomad | rs398122412 |
Varsome | rs398122412 |
LitVar | rs398122412 |
Map | rs398122412 |
PheGenI | rs398122412 |
Biobank | rs398122412 |
1000 genomes | rs398122412 |
hgdp | rs398122412 |
ensembl | rs398122412 |
geneview | rs398122412 |
scholar | rs398122412 |
rs398122412 | |
pharmgkb | rs398122412 |
gwascentral | rs398122412 |
openSNP | rs398122412 |
23andMe | rs398122412 |
SNPshot | rs398122412 |
SNPdbe | rs398122412 |
MSV3d | rs398122412 |
GWAS Ctlg | rs398122412 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122412(-;-) |
Alt | rs398122412(-;-) |
Reference | Rs398122412(T;T) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | MBD5 |
CLNDBN | Mental retardation, autosomal dominant 1 |
Reversed | 0 |
HGVS | NC_000002.11:g.149220187delT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000074465.3, |