rs1060500252
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1060500252(A;G) |
Make rs1060500252(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 31095310 |
Gene | LOC105371722, MIR4733, NF1 |
is a | snp |
is | mentioned by |
dbSNP | rs1060500252 |
dbSNP (classic) | rs1060500252 |
ClinGen | rs1060500252 |
ebi | rs1060500252 |
HLI | rs1060500252 |
Exac | rs1060500252 |
Gnomad | rs1060500252 |
Varsome | rs1060500252 |
LitVar | rs1060500252 |
Map | rs1060500252 |
PheGenI | rs1060500252 |
Biobank | rs1060500252 |
1000 genomes | rs1060500252 |
hgdp | rs1060500252 |
ensembl | rs1060500252 |
geneview | rs1060500252 |
scholar | rs1060500252 |
rs1060500252 | |
pharmgkb | rs1060500252 |
gwascentral | rs1060500252 |
openSNP | rs1060500252 |
23andMe | rs1060500252 |
SNPshot | rs1060500252 |
SNPdbe | rs1060500252 |
MSV3d | rs1060500252 |
GWAS Ctlg | rs1060500252 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060500252(G;G) |
Alt | rs1060500252(G;G) |
Reference | Rs1060500252(A;A) |
Significance | Pathogenic |
Disease | Neurofibromatosis |
Variation | info |
Gene | NF1 MIR4733 |
CLNDBN | Neurofibromatosis, type 1 |
Reversed | 0 |
HGVS | NC_000017.10:g.29422328A>G |
CLNSRC | |
CLNACC | RCV000476863.1, |