rs786203806
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;GCTGTCATTGCCTTCCGTT) | 5.5 | Neurofibromatosis type 1 |
(TGCTGTCATTGCCTTCCGT;TGCTGTCATTGCCTTCCGT) | 0 | common in clinvar |
Make rs786203806(-;-) |
Make rs786203806(GCTGTCATTGCCTTCCGTT;GCTGTCATTGCCTTCCGTT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 31337460 |
Gene | NF1 |
is a | snp |
is | mentioned by |
dbSNP | rs786203806 |
dbSNP (classic) | rs786203806 |
ClinGen | rs786203806 |
ebi | rs786203806 |
HLI | rs786203806 |
Exac | rs786203806 |
Gnomad | rs786203806 |
Varsome | rs786203806 |
LitVar | rs786203806 |
Map | rs786203806 |
PheGenI | rs786203806 |
Biobank | rs786203806 |
1000 genomes | rs786203806 |
hgdp | rs786203806 |
ensembl | rs786203806 |
geneview | rs786203806 |
scholar | rs786203806 |
rs786203806 | |
pharmgkb | rs786203806 |
gwascentral | rs786203806 |
openSNP | rs786203806 |
23andMe | rs786203806 |
SNPshot | rs786203806 |
SNPdbe | rs786203806 |
MSV3d | rs786203806 |
GWAS Ctlg | rs786203806 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs786203806(-;-) |
Alt | rs786203806(-;-) |
Reference | Rs786203806(TGCTGTCATTGCCTTCCGT;TGCTGTCATTGCCTTCCGT) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | NF1 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000017.10:g.29664478_29664496del19 |
CLNSRC | |
CLNACC | RCV000167268.1, |