rs398122946
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs398122946(G;T) |
Make rs398122946(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 38414889 |
Gene | FGFR1 |
is a | snp |
is | mentioned by |
dbSNP | rs398122946 |
dbSNP (classic) | rs398122946 |
ClinGen | rs398122946 |
ebi | rs398122946 |
HLI | rs398122946 |
Exac | rs398122946 |
Gnomad | rs398122946 |
Varsome | rs398122946 |
LitVar | rs398122946 |
Map | rs398122946 |
PheGenI | rs398122946 |
Biobank | rs398122946 |
1000 genomes | rs398122946 |
hgdp | rs398122946 |
ensembl | rs398122946 |
geneview | rs398122946 |
scholar | rs398122946 |
rs398122946 | |
pharmgkb | rs398122946 |
gwascentral | rs398122946 |
openSNP | rs398122946 |
23andMe | rs398122946 |
SNPshot | rs398122946 |
SNPdbe | rs398122946 |
MSV3d | rs398122946 |
GWAS Ctlg | rs398122946 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122946(T;T) |
Alt | rs398122946(T;T) |
Reference | Rs398122946(G;G) |
Significance | Pathogenic |
Disease | Hartsfield syndrome |
Variation | info |
Gene | FGFR1 |
CLNDBN | Hartsfield syndrome |
Reversed | 1 |
HGVS | NC_000008.10:g.38272407C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000056315.28, |