rs193922922
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs193922922(G;T) |
Make rs193922922(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 29798644 |
Gene | KIF22 |
is a | snp |
is | mentioned by |
dbSNP | rs193922922 |
dbSNP (classic) | rs193922922 |
ClinGen | rs193922922 |
ebi | rs193922922 |
HLI | rs193922922 |
Exac | rs193922922 |
Gnomad | rs193922922 |
Varsome | rs193922922 |
LitVar | rs193922922 |
Map | rs193922922 |
PheGenI | rs193922922 |
Biobank | rs193922922 |
1000 genomes | rs193922922 |
hgdp | rs193922922 |
ensembl | rs193922922 |
geneview | rs193922922 |
scholar | rs193922922 |
rs193922922 | |
pharmgkb | rs193922922 |
gwascentral | rs193922922 |
openSNP | rs193922922 |
23andMe | rs193922922 |
SNPshot | rs193922922 |
SNPdbe | rs193922922 |
MSV3d | rs193922922 |
GWAS Ctlg | rs193922922 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922922(A;A) rs193922922(T;T) |
Alt | rs193922922(A;A) rs193922922(T;T) |
Reference | Rs193922922(G;G) |
Significance | Pathogenic |
Disease | Spondyloepimetaphyseal dysplasia with multiple dislocations not provided |
Variation | info |
Gene | KIF22 |
CLNDBN | Spondyloepimetaphyseal dysplasia with multiple dislocations not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.29809965G>A; NC_000016.9:g.29809965G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023270.2, RCV000479053.1, RCV000023271.2, |