rs33931006
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs33931006(C;G) |
Make rs33931006(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 40622633 |
Gene | CASC5, KNL1 |
is a | snp |
is | mentioned by |
dbSNP | rs33931006 |
dbSNP (classic) | rs33931006 |
ClinGen | rs33931006 |
ebi | rs33931006 |
HLI | rs33931006 |
Exac | rs33931006 |
Gnomad | rs33931006 |
Varsome | rs33931006 |
LitVar | rs33931006 |
Map | rs33931006 |
PheGenI | rs33931006 |
Biobank | rs33931006 |
1000 genomes | rs33931006 |
hgdp | rs33931006 |
ensembl | rs33931006 |
geneview | rs33931006 |
scholar | rs33931006 |
rs33931006 | |
pharmgkb | rs33931006 |
gwascentral | rs33931006 |
openSNP | rs33931006 |
23andMe | rs33931006 |
SNPshot | rs33931006 |
SNPdbe | rs33931006 |
MSV3d | rs33931006 |
GWAS Ctlg | rs33931006 |
GMAF | 0.006887 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33931006(G;G) |
Alt | rs33931006(G;G) |
Reference | Rs33931006(C;C) |
Significance | Probable-non-pathogenic |
Disease | not specified Primary Microcephaly |
Variation | info |
Gene | KNL1 |
CLNDBN | not specified Primary Microcephaly, Recessive |
Reversed | 0 |
HGVS | NC_000015.9:g.40914831C>G |
CLNSRC | ClinVar University of Chicago |
CLNACC | RCV000116563.2, RCV000306942.1, |