rs786204207
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 5.5 | Neurofibromatosis type 1 |
(T;T) | 0 | common in clinvar |
Make rs786204207(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 31258504 |
Gene | NF1 |
is a | snp |
is | mentioned by |
dbSNP | rs786204207 |
dbSNP (classic) | rs786204207 |
ClinGen | rs786204207 |
ebi | rs786204207 |
HLI | rs786204207 |
Exac | rs786204207 |
Gnomad | rs786204207 |
Varsome | rs786204207 |
LitVar | rs786204207 |
Map | rs786204207 |
PheGenI | rs786204207 |
Biobank | rs786204207 |
1000 genomes | rs786204207 |
hgdp | rs786204207 |
ensembl | rs786204207 |
geneview | rs786204207 |
scholar | rs786204207 |
rs786204207 | |
pharmgkb | rs786204207 |
gwascentral | rs786204207 |
openSNP | rs786204207 |
23andMe | rs786204207 |
SNPshot | rs786204207 |
SNPdbe | rs786204207 |
MSV3d | rs786204207 |
GWAS Ctlg | rs786204207 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs786204207(C;C) |
Alt | rs786204207(C;C) |
Reference | Rs786204207(T;T) |
Significance | Probable-Pathogenic |
Disease | Neurofibromatosis |
Variation | info |
Gene | NF1 |
CLNDBN | Neurofibromatosis, type 1 |
Reversed | 0 |
HGVS | NC_000017.10:g.29585522T>C |
CLNSRC | |
CLNACC | RCV000168300.1, |