rs137854553
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 5.5 | Neurofibromatosis type 1 |
(T;T) | 0 | common in clinvar |
Make rs137854553(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 31230373 |
Gene | NF1 |
is a | snp |
is | mentioned by |
dbSNP | rs137854553 |
dbSNP (classic) | rs137854553 |
ClinGen | rs137854553 |
ebi | rs137854553 |
HLI | rs137854553 |
Exac | rs137854553 |
Gnomad | rs137854553 |
Varsome | rs137854553 |
LitVar | rs137854553 |
Map | rs137854553 |
PheGenI | rs137854553 |
Biobank | rs137854553 |
1000 genomes | rs137854553 |
hgdp | rs137854553 |
ensembl | rs137854553 |
geneview | rs137854553 |
scholar | rs137854553 |
rs137854553 | |
pharmgkb | rs137854553 |
gwascentral | rs137854553 |
openSNP | rs137854553 |
23andMe | rs137854553 |
SNPshot | rs137854553 |
SNPdbe | rs137854553 |
MSV3d | rs137854553 |
GWAS Ctlg | rs137854553 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs137854553(G;G) |
Alt | rs137854553(G;G) |
Reference | Rs137854553(T;T) |
Significance | Pathogenic |
Disease | Neurofibromatosis |
Variation | info |
Gene | NF1 |
CLNDBN | Neurofibromatosis, type 1 |
Reversed | 0 |
HGVS | NC_000017.10:g.29557391T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000375.4, |