rs267606604
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 5.5 | Neurofibromatosis type 1 |
Make rs267606604(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 31336328 |
Gene | NF1 |
is a | snp |
is | mentioned by |
dbSNP | rs267606604 |
dbSNP (classic) | rs267606604 |
ClinGen | rs267606604 |
ebi | rs267606604 |
HLI | rs267606604 |
Exac | rs267606604 |
Gnomad | rs267606604 |
Varsome | rs267606604 |
LitVar | rs267606604 |
Map | rs267606604 |
PheGenI | rs267606604 |
Biobank | rs267606604 |
1000 genomes | rs267606604 |
hgdp | rs267606604 |
ensembl | rs267606604 |
geneview | rs267606604 |
scholar | rs267606604 |
rs267606604 | |
pharmgkb | rs267606604 |
gwascentral | rs267606604 |
openSNP | rs267606604 |
23andMe | rs267606604 |
SNPshot | rs267606604 |
SNPdbe | rs267606604 |
MSV3d | rs267606604 |
GWAS Ctlg | rs267606604 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs267606604(G;G) |
Alt | rs267606604(G;G) |
Reference | Rs267606604(A;A) |
Significance | Pathogenic |
Disease | Neurofibromatosis |
Variation | info |
Gene | NF1 |
CLNDBN | Neurofibromatosis, type 1 Neurofibromatosis, familial spinal |
Reversed | 0 |
HGVS | NC_000017.10:g.29663346A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000387.6, RCV000000388.4, |