rs863224837
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 5.5 | Neurofibromatosis type 1 |
Make rs863224837(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 31357018 |
Gene | NF1 |
is a | snp |
is | mentioned by |
dbSNP | rs863224837 |
dbSNP (classic) | rs863224837 |
ClinGen | rs863224837 |
ebi | rs863224837 |
HLI | rs863224837 |
Exac | rs863224837 |
Gnomad | rs863224837 |
Varsome | rs863224837 |
LitVar | rs863224837 |
Map | rs863224837 |
PheGenI | rs863224837 |
Biobank | rs863224837 |
1000 genomes | rs863224837 |
hgdp | rs863224837 |
ensembl | rs863224837 |
geneview | rs863224837 |
scholar | rs863224837 |
rs863224837 | |
pharmgkb | rs863224837 |
gwascentral | rs863224837 |
openSNP | rs863224837 |
23andMe | rs863224837 |
SNPshot | rs863224837 |
SNPdbe | rs863224837 |
MSV3d | rs863224837 |
GWAS Ctlg | rs863224837 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs863224837(T;T) |
Alt | rs863224837(T;T) |
Reference | Rs863224837(-;-) |
Significance | Pathogenic |
Disease | Neurofibromatosis |
Variation | info |
Gene | NF1 |
CLNDBN | Neurofibromatosis, type 1 |
Reversed | 0 |
HGVS | NC_000017.10:g.29684036dupT |
CLNSRC | |
CLNACC | RCV000198354.1, |