rs119473030
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs119473030(C;C) |
Make rs119473030(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 75278265 |
Gene | SLC25A19 |
is a | snp |
is | mentioned by |
dbSNP | rs119473030 |
dbSNP (classic) | rs119473030 |
ClinGen | rs119473030 |
ebi | rs119473030 |
HLI | rs119473030 |
Exac | rs119473030 |
Gnomad | rs119473030 |
Varsome | rs119473030 |
LitVar | rs119473030 |
Map | rs119473030 |
PheGenI | rs119473030 |
Biobank | rs119473030 |
1000 genomes | rs119473030 |
hgdp | rs119473030 |
ensembl | rs119473030 |
geneview | rs119473030 |
scholar | rs119473030 |
rs119473030 | |
pharmgkb | rs119473030 |
gwascentral | rs119473030 |
openSNP | rs119473030 |
23andMe | rs119473030 |
SNPshot | rs119473030 |
SNPdbe | rs119473030 |
MSV3d | rs119473030 |
GWAS Ctlg | rs119473030 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs119473030(C;C) |
Alt | rs119473030(C;C) |
Reference | Rs119473030(G;G) |
Significance | Pathogenic |
Disease | Amish lethal microcephaly |
Variation | info |
Gene | SLC25A19 |
CLNDBN | Amish lethal microcephaly |
Reversed | 1 |
HGVS | NC_000017.10:g.73274346C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000004490.2, |