rs786202457
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 5.5 | Neurofibromatosis type 1 |
Make rs786202457(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 31350209 |
Gene | NF1 |
is a | snp |
is | mentioned by |
dbSNP | rs786202457 |
dbSNP (classic) | rs786202457 |
ClinGen | rs786202457 |
ebi | rs786202457 |
HLI | rs786202457 |
Exac | rs786202457 |
Gnomad | rs786202457 |
Varsome | rs786202457 |
LitVar | rs786202457 |
Map | rs786202457 |
PheGenI | rs786202457 |
Biobank | rs786202457 |
1000 genomes | rs786202457 |
hgdp | rs786202457 |
ensembl | rs786202457 |
geneview | rs786202457 |
scholar | rs786202457 |
rs786202457 | |
pharmgkb | rs786202457 |
gwascentral | rs786202457 |
openSNP | rs786202457 |
23andMe | rs786202457 |
SNPshot | rs786202457 |
SNPdbe | rs786202457 |
MSV3d | rs786202457 |
GWAS Ctlg | rs786202457 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs786202457(T;T) |
Alt | rs786202457(T;T) |
Reference | Rs786202457(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome not provided Lisch nodules Subcutaneous neurofibromas |
Variation | info |
Gene | NF1 |
CLNDBN | Hereditary cancer-predisposing syndrome not provided Lisch nodules Subcutaneous neurofibromas |
Reversed | 0 |
HGVS | NC_000017.10:g.29677227C>T |
CLNSRC | |
CLNACC | RCV000165277.1, RCV000414562.1, RCV000414830.1, |