rs121917834
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121917834(C;C) |
Make rs121917834(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 22163096 |
Gene | SFTPC |
is a | snp |
is | mentioned by |
dbSNP | rs121917834 |
dbSNP (classic) | rs121917834 |
ClinGen | rs121917834 |
ebi | rs121917834 |
HLI | rs121917834 |
Exac | rs121917834 |
Gnomad | rs121917834 |
Varsome | rs121917834 |
LitVar | rs121917834 |
Map | rs121917834 |
PheGenI | rs121917834 |
Biobank | rs121917834 |
1000 genomes | rs121917834 |
hgdp | rs121917834 |
ensembl | rs121917834 |
geneview | rs121917834 |
scholar | rs121917834 |
rs121917834 | |
pharmgkb | rs121917834 |
gwascentral | rs121917834 |
openSNP | rs121917834 |
23andMe | rs121917834 |
SNPshot | rs121917834 |
SNPdbe | rs121917834 |
MSV3d | rs121917834 |
GWAS Ctlg | rs121917834 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121917834(A;A) rs121917834(C;C) |
Alt | rs121917834(A;A) rs121917834(C;C) |
Reference | Rs121917834(T;T) |
Significance | Pathogenic |
Disease | Surfactant metabolism dysfunction |
Variation | info |
Gene | SFTPC |
CLNDBN | Surfactant metabolism dysfunction, pulmonary, 2 |
Reversed | 0 |
HGVS | NC_000008.10:g.22020609T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014095.26, |