rs587776409
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 7 | Fanconi anemia, complementation group N |
(-;CTAATTT) | 3 | Possible miscall in Ancestry v2c data; otherwise, moderately increased risk of breast cancer |
(CTAATTT;CTAATTT) | 0 | common in clinvar |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 23635584 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs587776409 |
dbSNP (classic) | rs587776409 |
ClinGen | rs587776409 |
ebi | rs587776409 |
HLI | rs587776409 |
Exac | rs587776409 |
Gnomad | rs587776409 |
Varsome | rs587776409 |
LitVar | rs587776409 |
Map | rs587776409 |
PheGenI | rs587776409 |
Biobank | rs587776409 |
1000 genomes | rs587776409 |
hgdp | rs587776409 |
ensembl | rs587776409 |
geneview | rs587776409 |
scholar | rs587776409 |
rs587776409 | |
pharmgkb | rs587776409 |
gwascentral | rs587776409 |
openSNP | rs587776409 |
23andMe | rs587776409 |
SNPshot | rs587776409 |
SNPdbe | rs587776409 |
MSV3d | rs587776409 |
GWAS Ctlg | rs587776409 |
Max Magnitude | 7 |
c.956_962del (p.Ser319Terfs)
ClinVar | |
---|---|
Risk | Rs587776409(-;-) |
Alt | Rs587776409(-;-) |
Reference | Rs587776409(CTAATTT;CTAATTT) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | PALB2 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000016.9:g.23646905_23646911delAAATTAG |
CLNSRC | ClinVar |
CLNACC | RCV000133494.1, |