rs387906879
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs387906879(G;G) |
Make rs387906879(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 44859132 |
Gene | EFTUD2 |
is a | snp |
is | mentioned by |
dbSNP | rs387906879 |
dbSNP (classic) | rs387906879 |
ClinGen | rs387906879 |
ebi | rs387906879 |
HLI | rs387906879 |
Exac | rs387906879 |
Gnomad | rs387906879 |
Varsome | rs387906879 |
LitVar | rs387906879 |
Map | rs387906879 |
PheGenI | rs387906879 |
Biobank | rs387906879 |
1000 genomes | rs387906879 |
hgdp | rs387906879 |
ensembl | rs387906879 |
geneview | rs387906879 |
scholar | rs387906879 |
rs387906879 | |
pharmgkb | rs387906879 |
gwascentral | rs387906879 |
openSNP | rs387906879 |
23andMe | rs387906879 |
SNPshot | rs387906879 |
SNPdbe | rs387906879 |
MSV3d | rs387906879 |
GWAS Ctlg | rs387906879 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906879(G;G) |
Alt | rs387906879(G;G) |
Reference | Rs387906879(T;T) |
Significance | Pathogenic |
Disease | Growth and mental retardation |
Variation | info |
Gene | EFTUD2 |
CLNDBN | Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate |
Reversed | 1 |
HGVS | NC_000017.10:g.42936500A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023357.3, |