rs876657633
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AAGGTGC;AAGGTGC) | 0 | common in clinvar |
Make rs876657633(AAGGTGC;CCA) |
Make rs876657633(CCA;CCA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 2300001 |
Gene | ABCA3 |
is a | snp |
is | mentioned by |
dbSNP | rs876657633 |
dbSNP (classic) | rs876657633 |
ClinGen | rs876657633 |
ebi | rs876657633 |
HLI | rs876657633 |
Exac | rs876657633 |
Gnomad | rs876657633 |
Varsome | rs876657633 |
LitVar | rs876657633 |
Map | rs876657633 |
PheGenI | rs876657633 |
Biobank | rs876657633 |
1000 genomes | rs876657633 |
hgdp | rs876657633 |
ensembl | rs876657633 |
geneview | rs876657633 |
scholar | rs876657633 |
rs876657633 | |
pharmgkb | rs876657633 |
gwascentral | rs876657633 |
openSNP | rs876657633 |
23andMe | rs876657633 |
SNPshot | rs876657633 |
SNPdbe | rs876657633 |
MSV3d | rs876657633 |
GWAS Ctlg | rs876657633 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs876657633(CCA;CCA) |
Alt | rs876657633(CCA;CCA) |
Reference | Rs876657633(AAGGTGC;AAGGTGC) |
Significance | Probable-Pathogenic |
Disease | Idiopathic fibrosing alveolitis |
Variation | info |
Gene | ABCA3 |
CLNDBN | Idiopathic fibrosing alveolitis, chronic form |
Reversed | 1 |
HGVS | NC_000016.9:g.2350002_2350008delinsTGG |
CLNSRC | |
CLNACC | RCV000215018.1, |