rs771529172
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;G) | 5.5 | Neurofibromatosis type 1 |
(G;G) | 0 | common in clinvar |
Make rs771529172(G;T) |
Make rs771529172(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 31327719 |
Gene | NF1 |
is a | snp |
is | mentioned by |
dbSNP | rs771529172 |
dbSNP (classic) | rs771529172 |
ClinGen | rs771529172 |
ebi | rs771529172 |
HLI | rs771529172 |
Exac | rs771529172 |
Gnomad | rs771529172 |
Varsome | rs771529172 |
LitVar | rs771529172 |
Map | rs771529172 |
PheGenI | rs771529172 |
Biobank | rs771529172 |
1000 genomes | rs771529172 |
hgdp | rs771529172 |
ensembl | rs771529172 |
geneview | rs771529172 |
scholar | rs771529172 |
rs771529172 | |
pharmgkb | rs771529172 |
gwascentral | rs771529172 |
openSNP | rs771529172 |
23andMe | rs771529172 |
SNPshot | rs771529172 |
SNPdbe | rs771529172 |
MSV3d | rs771529172 |
GWAS Ctlg | rs771529172 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs771529172(A;A) rs771529172(C;C) rs771529172(T;T) |
Alt | rs771529172(A;A) rs771529172(C;C) rs771529172(T;T) |
Reference | Rs771529172(G;G) |
Significance | Pathogenic |
Disease | Neurofibromatosis Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | NF1 |
CLNDBN | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000017.10:g.29654737G>A; NC_000017.10:g.29654737G>C; NC_000017.10:g.29654737G>T |
CLNSRC | |
CLNACC | RCV000459557.1, RCV000190891.1, RCV000190890.1, RCV000492566.1, |