rs267606596
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;C) | 5.5 | Neurofibromatosis type 1 |
Make rs267606596(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 31327741 |
Gene | NF1 |
is a | snp |
is | mentioned by |
dbSNP | rs267606596 |
dbSNP (classic) | rs267606596 |
ClinGen | rs267606596 |
ebi | rs267606596 |
HLI | rs267606596 |
Exac | rs267606596 |
Gnomad | rs267606596 |
Varsome | rs267606596 |
LitVar | rs267606596 |
Map | rs267606596 |
PheGenI | rs267606596 |
Biobank | rs267606596 |
1000 genomes | rs267606596 |
hgdp | rs267606596 |
ensembl | rs267606596 |
geneview | rs267606596 |
scholar | rs267606596 |
rs267606596 | |
pharmgkb | rs267606596 |
gwascentral | rs267606596 |
openSNP | rs267606596 |
23andMe | rs267606596 |
SNPshot | rs267606596 |
SNPdbe | rs267606596 |
MSV3d | rs267606596 |
GWAS Ctlg | rs267606596 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs267606596(C;C) |
Alt | rs267606596(C;C) |
Reference | Rs267606596(-;-) |
Significance | Pathogenic |
Disease | Neurofibromatosis |
Variation | info |
Gene | NF1 |
CLNDBN | Neurofibromatosis, type 1 |
Reversed | 0 |
HGVS | NC_000017.10:g.29654759dupC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000365.3, |