rs202194355
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs202194355(C;C) |
Make rs202194355(C;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 47282364 |
Gene | STIL |
is a | snp |
is | mentioned by |
dbSNP | rs202194355 |
dbSNP (classic) | rs202194355 |
ClinGen | rs202194355 |
ebi | rs202194355 |
HLI | rs202194355 |
Exac | rs202194355 |
Gnomad | rs202194355 |
Varsome | rs202194355 |
LitVar | rs202194355 |
Map | rs202194355 |
PheGenI | rs202194355 |
Biobank | rs202194355 |
1000 genomes | rs202194355 |
hgdp | rs202194355 |
ensembl | rs202194355 |
geneview | rs202194355 |
scholar | rs202194355 |
rs202194355 | |
pharmgkb | rs202194355 |
gwascentral | rs202194355 |
openSNP | rs202194355 |
23andMe | rs202194355 |
SNPshot | rs202194355 |
SNPdbe | rs202194355 |
MSV3d | rs202194355 |
GWAS Ctlg | rs202194355 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202194355(C;C) |
Alt | rs202194355(C;C) |
Reference | Rs202194355(G;G) |
Significance | Probable-Pathogenic |
Disease | Inborn genetic diseases Primary Microcephaly |
Variation | info |
Gene | STIL |
CLNDBN | Inborn genetic diseases Primary Microcephaly, Recessive |
Reversed | 0 |
HGVS | NC_000001.10:g.47748036G>C |
CLNSRC | |
CLNACC | RCV000210708.1, RCV000394392.1, |