rs1060500321
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs1060500321(-;-) |
Make rs1060500321(-;GA) |
Make rs1060500321(GA;GA) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 31159011 |
Gene | NF1 |
is a | snp |
is | mentioned by |
dbSNP | rs1060500321 |
dbSNP (classic) | rs1060500321 |
ClinGen | rs1060500321 |
ebi | rs1060500321 |
HLI | rs1060500321 |
Exac | rs1060500321 |
Gnomad | rs1060500321 |
Varsome | rs1060500321 |
LitVar | rs1060500321 |
Map | rs1060500321 |
PheGenI | rs1060500321 |
Biobank | rs1060500321 |
1000 genomes | rs1060500321 |
hgdp | rs1060500321 |
ensembl | rs1060500321 |
geneview | rs1060500321 |
scholar | rs1060500321 |
rs1060500321 | |
pharmgkb | rs1060500321 |
gwascentral | rs1060500321 |
openSNP | rs1060500321 |
23andMe | rs1060500321 |
SNPshot | rs1060500321 |
SNPdbe | rs1060500321 |
MSV3d | rs1060500321 |
GWAS Ctlg | rs1060500321 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060500321(-;-) |
Alt | rs1060500321(-;-) |
Reference | Rs1060500321(AG;AG) |
Significance | Pathogenic |
Disease | Neurofibromatosis |
Variation | info |
Gene | NF1 |
CLNDBN | Neurofibromatosis, type 1 |
Reversed | 0 |
HGVS | NC_000017.10:g.29486029_29486030delGA |
CLNSRC | |
CLNACC | RCV000471149.1, |