rs387907011
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs387907011(G;G) |
Make rs387907011(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 47176216 |
Gene | IER3IP1 |
is a | snp |
is | mentioned by |
dbSNP | rs387907011 |
dbSNP (classic) | rs387907011 |
ClinGen | rs387907011 |
ebi | rs387907011 |
HLI | rs387907011 |
Exac | rs387907011 |
Gnomad | rs387907011 |
Varsome | rs387907011 |
LitVar | rs387907011 |
Map | rs387907011 |
PheGenI | rs387907011 |
Biobank | rs387907011 |
1000 genomes | rs387907011 |
hgdp | rs387907011 |
ensembl | rs387907011 |
geneview | rs387907011 |
scholar | rs387907011 |
rs387907011 | |
pharmgkb | rs387907011 |
gwascentral | rs387907011 |
openSNP | rs387907011 |
23andMe | rs387907011 |
SNPshot | rs387907011 |
SNPdbe | rs387907011 |
MSV3d | rs387907011 |
GWAS Ctlg | rs387907011 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387907011(G;G) |
Alt | rs387907011(G;G) |
Reference | Rs387907011(T;T) |
Significance | Pathogenic |
Disease | Microcephaly |
Variation | info |
Gene | IER3IP1 |
CLNDBN | Microcephaly, epilepsy, and diabetes syndrome |
Reversed | 1 |
HGVS | NC_000018.9:g.44702587A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023767.3, |