rs752160950
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs752160950(A;A) |
Make rs752160950(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 89767185 |
Gene | FANCA |
is a | snp |
is | mentioned by |
dbSNP | rs752160950 |
dbSNP (classic) | rs752160950 |
ClinGen | rs752160950 |
ebi | rs752160950 |
HLI | rs752160950 |
Exac | rs752160950 |
Gnomad | rs752160950 |
Varsome | rs752160950 |
LitVar | rs752160950 |
Map | rs752160950 |
PheGenI | rs752160950 |
Biobank | rs752160950 |
1000 genomes | rs752160950 |
hgdp | rs752160950 |
ensembl | rs752160950 |
geneview | rs752160950 |
scholar | rs752160950 |
rs752160950 | |
pharmgkb | rs752160950 |
gwascentral | rs752160950 |
openSNP | rs752160950 |
23andMe | rs752160950 |
SNPshot | rs752160950 |
SNPdbe | rs752160950 |
MSV3d | rs752160950 |
GWAS Ctlg | rs752160950 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs752160950(A;A) |
Alt | rs752160950(A;A) |
Reference | Rs752160950(G;G) |
Significance | Pathogenic |
Disease | Fanconi anemia |
Variation | info |
Gene | FANCA |
CLNDBN | Fanconi anemia, complementation group A |
Reversed | 0 |
HGVS | NC_000016.9:g.89833593G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000173013.3, |