rs878853904
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 5.5 | Neurofibromatosis type 1 |
Make rs878853904(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 31330357 |
Gene | NF1 |
is a | snp |
is | mentioned by |
dbSNP | rs878853904 |
dbSNP (classic) | rs878853904 |
ClinGen | rs878853904 |
ebi | rs878853904 |
HLI | rs878853904 |
Exac | rs878853904 |
Gnomad | rs878853904 |
Varsome | rs878853904 |
LitVar | rs878853904 |
Map | rs878853904 |
PheGenI | rs878853904 |
Biobank | rs878853904 |
1000 genomes | rs878853904 |
hgdp | rs878853904 |
ensembl | rs878853904 |
geneview | rs878853904 |
scholar | rs878853904 |
rs878853904 | |
pharmgkb | rs878853904 |
gwascentral | rs878853904 |
openSNP | rs878853904 |
23andMe | rs878853904 |
SNPshot | rs878853904 |
SNPdbe | rs878853904 |
MSV3d | rs878853904 |
GWAS Ctlg | rs878853904 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs878853904(T;T) |
Alt | rs878853904(T;T) |
Reference | Rs878853904(C;C) |
Significance | Pathogenic |
Disease | Neurofibromatosis |
Variation | info |
Gene | NF1 |
CLNDBN | Neurofibromatosis, type 1 |
Reversed | 0 |
HGVS | NC_000017.10:g.29657375C>T |
CLNSRC | |
CLNACC | RCV000226584.1, |