rs863224836
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(ACTT;ACTT) | 0 | common in clinvar |
(TTAC;TTAC) | 0 | common in clinvar |
Make rs863224836(-;-) |
Make rs863224836(-;TTAC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 31338736 |
Gene | NF1 |
is a | snp |
is | mentioned by |
dbSNP | rs863224836 |
dbSNP (classic) | rs863224836 |
ClinGen | rs863224836 |
ebi | rs863224836 |
HLI | rs863224836 |
Exac | rs863224836 |
Gnomad | rs863224836 |
Varsome | rs863224836 |
LitVar | rs863224836 |
Map | rs863224836 |
PheGenI | rs863224836 |
Biobank | rs863224836 |
1000 genomes | rs863224836 |
hgdp | rs863224836 |
ensembl | rs863224836 |
geneview | rs863224836 |
scholar | rs863224836 |
rs863224836 | |
pharmgkb | rs863224836 |
gwascentral | rs863224836 |
openSNP | rs863224836 |
23andMe | rs863224836 |
SNPshot | rs863224836 |
SNPdbe | rs863224836 |
MSV3d | rs863224836 |
GWAS Ctlg | rs863224836 |
Merged from | Rs864622307 |
Max Magnitude | 0 |
aka c.6789_6792delTTAC (p.Tyr2264Thrfs)
ClinVar | |
---|---|
Risk | rs863224836(-;-) Rs863224836(ACTT;ACTT) |
Alt | rs863224836(-;-) Rs863224836(ACTT;ACTT) |
Reference | Rs863224836(TTAC;TTAC) |
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.29665754_29665757delTTAC |
CLNSRC | |
CLNACC | RCV000196480.2, RCV000492169.1, |