rs672601313
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs672601313(C;T) |
Make rs672601313(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 22 |
Position | 36930468 |
Gene | CSF2RB |
is a | snp |
is | mentioned by |
dbSNP | rs672601313 |
dbSNP (classic) | rs672601313 |
ClinGen | rs672601313 |
ebi | rs672601313 |
HLI | rs672601313 |
Exac | rs672601313 |
Gnomad | rs672601313 |
Varsome | rs672601313 |
LitVar | rs672601313 |
Map | rs672601313 |
PheGenI | rs672601313 |
Biobank | rs672601313 |
1000 genomes | rs672601313 |
hgdp | rs672601313 |
ensembl | rs672601313 |
geneview | rs672601313 |
scholar | rs672601313 |
rs672601313 | |
pharmgkb | rs672601313 |
gwascentral | rs672601313 |
openSNP | rs672601313 |
23andMe | rs672601313 |
SNPshot | rs672601313 |
SNPdbe | rs672601313 |
MSV3d | rs672601313 |
GWAS Ctlg | rs672601313 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs672601313(A;A) rs672601313(T;T) |
Alt | rs672601313(A;A) rs672601313(T;T) |
Reference | Rs672601313(C;C) |
Significance | Pathogenic |
Disease | Surfactant metabolism dysfunction |
Variation | info |
Gene | CSF2RB |
CLNDBN | Surfactant metabolism dysfunction, pulmonary, 5 |
Reversed | 0 |
HGVS | NC_000022.10:g.37326510C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000149403.2, |