rs11858113
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs11858113(C;C) |
Make rs11858113(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 40621979 |
Gene | CASC5, KNL1 |
is a | snp |
is | mentioned by |
dbSNP | rs11858113 |
dbSNP (classic) | rs11858113 |
ClinGen | rs11858113 |
ebi | rs11858113 |
HLI | rs11858113 |
Exac | rs11858113 |
Gnomad | rs11858113 |
Varsome | rs11858113 |
LitVar | rs11858113 |
Map | rs11858113 |
PheGenI | rs11858113 |
Biobank | rs11858113 |
1000 genomes | rs11858113 |
hgdp | rs11858113 |
ensembl | rs11858113 |
geneview | rs11858113 |
scholar | rs11858113 |
rs11858113 | |
pharmgkb | rs11858113 |
gwascentral | rs11858113 |
openSNP | rs11858113 |
23andMe | rs11858113 |
SNPshot | rs11858113 |
SNPdbe | rs11858113 |
MSV3d | rs11858113 |
GWAS Ctlg | rs11858113 |
GMAF | 0.348 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs11858113(C;C) |
Alt | rs11858113(C;C) |
Reference | Rs11858113(T;T) |
Significance | Non-pathogenic |
Disease | not specified Primary Microcephaly |
Variation | info |
Gene | KNL1 |
CLNDBN | not specified Primary Microcephaly, Recessive |
Reversed | 0 |
HGVS | NC_000015.9:g.40914177T>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000116561.1, RCV000300029.1, |