rs104894024
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104894024(A;A) |
Make rs104894024(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 2525301 |
Gene | LFNG, MIR4648 |
is a | snp |
is | mentioned by |
dbSNP | rs104894024 |
dbSNP (classic) | rs104894024 |
ClinGen | rs104894024 |
ebi | rs104894024 |
HLI | rs104894024 |
Exac | rs104894024 |
Gnomad | rs104894024 |
Varsome | rs104894024 |
LitVar | rs104894024 |
Map | rs104894024 |
PheGenI | rs104894024 |
Biobank | rs104894024 |
1000 genomes | rs104894024 |
hgdp | rs104894024 |
ensembl | rs104894024 |
geneview | rs104894024 |
scholar | rs104894024 |
rs104894024 | |
pharmgkb | rs104894024 |
gwascentral | rs104894024 |
openSNP | rs104894024 |
23andMe | rs104894024 |
SNPshot | rs104894024 |
SNPdbe | rs104894024 |
MSV3d | rs104894024 |
GWAS Ctlg | rs104894024 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894024(A;A) rs104894024(T;T) |
Alt | rs104894024(A;A) rs104894024(T;T) |
Reference | Rs104894024(C;C) |
Significance | Pathogenic |
Disease | Spondylocostal dysostosis 3 |
Variation | info |
Gene | MIR4648 LFNG |
CLNDBN | Spondylocostal dysostosis 3 |
Reversed | 0 |
HGVS | NC_000007.13:g.2564935C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007414.4, |