rs746860249
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs746860249(-;-) |
Make rs746860249(-;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 4 |
Position | 106235348 |
Gene | TBCK |
is a | snp |
is | mentioned by |
dbSNP | rs746860249 |
dbSNP (classic) | rs746860249 |
ClinGen | rs746860249 |
ebi | rs746860249 |
HLI | rs746860249 |
Exac | rs746860249 |
Gnomad | rs746860249 |
Varsome | rs746860249 |
LitVar | rs746860249 |
Map | rs746860249 |
PheGenI | rs746860249 |
Biobank | rs746860249 |
1000 genomes | rs746860249 |
hgdp | rs746860249 |
ensembl | rs746860249 |
geneview | rs746860249 |
scholar | rs746860249 |
rs746860249 | |
pharmgkb | rs746860249 |
gwascentral | rs746860249 |
openSNP | rs746860249 |
23andMe | rs746860249 |
SNPshot | rs746860249 |
SNPdbe | rs746860249 |
MSV3d | rs746860249 |
GWAS Ctlg | rs746860249 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs746860249(-;-) |
Alt | rs746860249(-;-) |
Reference | Rs746860249(T;T) |
Significance | Pathogenic |
Disease | Hypotonia |
Variation | info |
Gene | TBCK |
CLNDBN | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 |
Reversed | 0 |
HGVS | NC_000004.11:g.107156505delT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210867.2, |