rs886041209
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;AAAG) | 5.2 | Cerebral cavernous angioma associated mutation; variable penetrance |
(AAAG;AAAG) | 0 | common in clinvar |
Make rs886041209(-;-) |
Chromosome | 7 |
Position | 92241101 |
Gene | KRIT1 |
is a | snp |
is | mentioned by |
dbSNP | rs886041209 |
dbSNP (classic) | rs886041209 |
ClinGen | rs886041209 |
ebi | rs886041209 |
HLI | rs886041209 |
Exac | rs886041209 |
Gnomad | rs886041209 |
Varsome | rs886041209 |
LitVar | rs886041209 |
Map | rs886041209 |
PheGenI | rs886041209 |
Biobank | rs886041209 |
1000 genomes | rs886041209 |
hgdp | rs886041209 |
ensembl | rs886041209 |
geneview | rs886041209 |
scholar | rs886041209 |
rs886041209 | |
pharmgkb | rs886041209 |
gwascentral | rs886041209 |
openSNP | rs886041209 |
23andMe | rs886041209 |
SNPshot | rs886041209 |
SNPdbe | rs886041209 |
MSV3d | rs886041209 |
GWAS Ctlg | rs886041209 |
Max Magnitude | 5.2 |
aka c.151_154delAAAG (p.Lys51Phefs)
ClinVar | |
---|---|
Risk | rs886041209(-;-) |
Alt | rs886041209(-;-) |
Reference | Rs886041209(AAAG;AAAG) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | KRIT1 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000007.13:g.91870415_91870418delCTTT |
CLNSRC | |
CLNACC | RCV000368749.1, |