rs1057517967
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057517967(A;A) |
Make rs1057517967(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 31181724 |
Gene | NF1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057517967 |
dbSNP (classic) | rs1057517967 |
ClinGen | rs1057517967 |
ebi | rs1057517967 |
HLI | rs1057517967 |
Exac | rs1057517967 |
Gnomad | rs1057517967 |
Varsome | rs1057517967 |
LitVar | rs1057517967 |
Map | rs1057517967 |
PheGenI | rs1057517967 |
Biobank | rs1057517967 |
1000 genomes | rs1057517967 |
hgdp | rs1057517967 |
ensembl | rs1057517967 |
geneview | rs1057517967 |
scholar | rs1057517967 |
rs1057517967 | |
pharmgkb | rs1057517967 |
gwascentral | rs1057517967 |
openSNP | rs1057517967 |
23andMe | rs1057517967 |
SNPshot | rs1057517967 |
SNPdbe | rs1057517967 |
MSV3d | rs1057517967 |
GWAS Ctlg | rs1057517967 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517967(A;A) |
Alt | rs1057517967(A;A) |
Reference | Rs1057517967(G;G) |
Significance | Pathogenic |
Disease | not provided Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | NF1 |
CLNDBN | not provided Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000017.10:g.29508742G>A |
CLNSRC | |
CLNACC | RCV000413819.1, RCV000492355.1, |