rs863225127
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs863225127(-;T) |
Make rs863225127(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 40625448 |
Gene | CASC5, KNL1 |
is a | snp |
is | mentioned by |
dbSNP | rs863225127 |
dbSNP (classic) | rs863225127 |
ClinGen | rs863225127 |
ebi | rs863225127 |
HLI | rs863225127 |
Exac | rs863225127 |
Gnomad | rs863225127 |
Varsome | rs863225127 |
LitVar | rs863225127 |
Map | rs863225127 |
PheGenI | rs863225127 |
Biobank | rs863225127 |
1000 genomes | rs863225127 |
hgdp | rs863225127 |
ensembl | rs863225127 |
geneview | rs863225127 |
scholar | rs863225127 |
rs863225127 | |
pharmgkb | rs863225127 |
gwascentral | rs863225127 |
openSNP | rs863225127 |
23andMe | rs863225127 |
SNPshot | rs863225127 |
SNPdbe | rs863225127 |
MSV3d | rs863225127 |
GWAS Ctlg | rs863225127 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863225127(T;T) |
Alt | rs863225127(T;T) |
Reference | Rs863225127(-;-) |
Significance | Pathogenic |
Disease | Primary autosomal recessive microcephaly 4 |
Variation | info |
Gene | KNL1 |
CLNDBN | Primary autosomal recessive microcephaly 4 |
Reversed | 0 |
HGVS | NC_000015.9:g.40917646dupT |
CLNSRC | University Of Arkansas for Medical Sciences |
CLNACC | RCV000201695.1, |