rs267606602
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 5.5 | Neurofibromatosis type 1 |
Make rs267606602(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 31221842 |
Gene | NF1 |
is a | snp |
is | mentioned by |
dbSNP | rs267606602 |
dbSNP (classic) | rs267606602 |
ClinGen | rs267606602 |
ebi | rs267606602 |
HLI | rs267606602 |
Exac | rs267606602 |
Gnomad | rs267606602 |
Varsome | rs267606602 |
LitVar | rs267606602 |
Map | rs267606602 |
PheGenI | rs267606602 |
Biobank | rs267606602 |
1000 genomes | rs267606602 |
hgdp | rs267606602 |
ensembl | rs267606602 |
geneview | rs267606602 |
scholar | rs267606602 |
rs267606602 | |
pharmgkb | rs267606602 |
gwascentral | rs267606602 |
openSNP | rs267606602 |
23andMe | rs267606602 |
SNPshot | rs267606602 |
SNPdbe | rs267606602 |
MSV3d | rs267606602 |
GWAS Ctlg | rs267606602 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs267606602(G;G) |
Alt | rs267606602(G;G) |
Reference | Rs267606602(A;A) |
Significance | Pathogenic |
Disease | Juvenile myelomonocytic leukemia Neurofibromatosis |
Variation | info |
Gene | NF1 |
CLNDBN | Juvenile myelomonocytic leukemia Neurofibromatosis, type 1 |
Reversed | 0 |
HGVS | NC_000017.10:g.29548860A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000380.4, RCV000190422.3, |