rs1060500323
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TGG;TGG) | 0 | common in clinvar |
Make rs1060500323(-;-) |
Make rs1060500323(-;TGG) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 31182535 |
Gene | NF1 |
is a | snp |
is | mentioned by |
dbSNP | rs1060500323 |
dbSNP (classic) | rs1060500323 |
ClinGen | rs1060500323 |
ebi | rs1060500323 |
HLI | rs1060500323 |
Exac | rs1060500323 |
Gnomad | rs1060500323 |
Varsome | rs1060500323 |
LitVar | rs1060500323 |
Map | rs1060500323 |
PheGenI | rs1060500323 |
Biobank | rs1060500323 |
1000 genomes | rs1060500323 |
hgdp | rs1060500323 |
ensembl | rs1060500323 |
geneview | rs1060500323 |
scholar | rs1060500323 |
rs1060500323 | |
pharmgkb | rs1060500323 |
gwascentral | rs1060500323 |
openSNP | rs1060500323 |
23andMe | rs1060500323 |
SNPshot | rs1060500323 |
SNPdbe | rs1060500323 |
MSV3d | rs1060500323 |
GWAS Ctlg | rs1060500323 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060500323(-;-) |
Alt | rs1060500323(-;-) |
Reference | Rs1060500323(TGG;TGG) |
Significance | Probable-Pathogenic |
Disease | Neurofibromatosis |
Variation | info |
Gene | NF1 |
CLNDBN | Neurofibromatosis, type 1 |
Reversed | 0 |
HGVS | NC_000017.10:g.29509553_29509555delTGG |
CLNSRC | |
CLNACC | RCV000469747.1, |