rs119462978
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs119462978(C;T) |
Make rs119462978(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 126562850 |
Gene | KIRREL3 |
is a | snp |
is | mentioned by |
dbSNP | rs119462978 |
dbSNP (classic) | rs119462978 |
ClinGen | rs119462978 |
ebi | rs119462978 |
HLI | rs119462978 |
Exac | rs119462978 |
Gnomad | rs119462978 |
Varsome | rs119462978 |
LitVar | rs119462978 |
Map | rs119462978 |
PheGenI | rs119462978 |
Biobank | rs119462978 |
1000 genomes | rs119462978 |
hgdp | rs119462978 |
ensembl | rs119462978 |
geneview | rs119462978 |
scholar | rs119462978 |
rs119462978 | |
pharmgkb | rs119462978 |
gwascentral | rs119462978 |
openSNP | rs119462978 |
23andMe | rs119462978 |
SNPshot | rs119462978 |
SNPdbe | rs119462978 |
MSV3d | rs119462978 |
GWAS Ctlg | rs119462978 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs119462978(T;T) |
Alt | rs119462978(T;T) |
Reference | Rs119462978(C;C) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | KIRREL3 |
CLNDBN | Mental retardation, autosomal dominant 4 |
Reversed | 1 |
HGVS | NC_000011.9:g.126432745G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003020.3, |