rs267606600
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AG) | 5.5 | Neurofibromatosis type 1 |
(AG;AG) | 0 | common in clinvar |
Make rs267606600(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 31219018 |
Gene | NF1 |
is a | snp |
is | mentioned by |
dbSNP | rs267606600 |
dbSNP (classic) | rs267606600 |
ClinGen | rs267606600 |
ebi | rs267606600 |
HLI | rs267606600 |
Exac | rs267606600 |
Gnomad | rs267606600 |
Varsome | rs267606600 |
LitVar | rs267606600 |
Map | rs267606600 |
PheGenI | rs267606600 |
Biobank | rs267606600 |
1000 genomes | rs267606600 |
hgdp | rs267606600 |
ensembl | rs267606600 |
geneview | rs267606600 |
scholar | rs267606600 |
rs267606600 | |
pharmgkb | rs267606600 |
gwascentral | rs267606600 |
openSNP | rs267606600 |
23andMe | rs267606600 |
SNPshot | rs267606600 |
SNPdbe | rs267606600 |
MSV3d | rs267606600 |
GWAS Ctlg | rs267606600 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs267606600(-;-) |
Alt | rs267606600(-;-) |
Reference | Rs267606600(AG;AG) |
Significance | Pathogenic |
Disease | Neurofibromatosis Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | NF1 |
CLNDBN | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.29546036_29546037delAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000374.3, RCV000164295.1, RCV000414730.1, |