rs749995448
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs749995448(A;A) |
Make rs749995448(A;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 101676673 |
Gene | GRIK2 |
is a | snp |
is | mentioned by |
dbSNP | rs749995448 |
dbSNP (classic) | rs749995448 |
ClinGen | rs749995448 |
ebi | rs749995448 |
HLI | rs749995448 |
Exac | rs749995448 |
Gnomad | rs749995448 |
Varsome | rs749995448 |
LitVar | rs749995448 |
Map | rs749995448 |
PheGenI | rs749995448 |
Biobank | rs749995448 |
1000 genomes | rs749995448 |
hgdp | rs749995448 |
ensembl | rs749995448 |
geneview | rs749995448 |
scholar | rs749995448 |
rs749995448 | |
pharmgkb | rs749995448 |
gwascentral | rs749995448 |
openSNP | rs749995448 |
23andMe | rs749995448 |
SNPshot | rs749995448 |
SNPdbe | rs749995448 |
MSV3d | rs749995448 |
GWAS Ctlg | rs749995448 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs749995448(A;A) rs749995448(T;T) |
Alt | rs749995448(A;A) rs749995448(T;T) |
Reference | Rs749995448(C;C) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | GRIK2 |
CLNDBN | Mental retardation, autosomal recessive 6 |
Reversed | 0 |
HGVS | NC_000006.11:g.102124548C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000169686.3, |