rs121918560
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121918560(C;C) |
Make rs121918560(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 22164028 |
Gene | BMP1, SFTPC |
is a | snp |
is | mentioned by |
dbSNP | rs121918560 |
dbSNP (classic) | rs121918560 |
ClinGen | rs121918560 |
ebi | rs121918560 |
HLI | rs121918560 |
Exac | rs121918560 |
Gnomad | rs121918560 |
Varsome | rs121918560 |
LitVar | rs121918560 |
Map | rs121918560 |
PheGenI | rs121918560 |
Biobank | rs121918560 |
1000 genomes | rs121918560 |
hgdp | rs121918560 |
ensembl | rs121918560 |
geneview | rs121918560 |
scholar | rs121918560 |
rs121918560 | |
pharmgkb | rs121918560 |
gwascentral | rs121918560 |
openSNP | rs121918560 |
23andMe | rs121918560 |
SNPshot | rs121918560 |
SNPdbe | rs121918560 |
MSV3d | rs121918560 |
GWAS Ctlg | rs121918560 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918560(C;C) |
Alt | rs121918560(C;C) |
Reference | Rs121918560(T;T) |
Significance | Pathogenic |
Disease | Surfactant metabolism dysfunction |
Variation | info |
Gene | SFTPC BMP1 |
CLNDBN | Surfactant metabolism dysfunction, pulmonary, 2 |
Reversed | 0 |
HGVS | NC_000008.10:g.22021541T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014101.26, |