rs199474785
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 5.5 | Neurofibromatosis type 1 |
Make rs199474785(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 31229145 |
Gene | NF1 |
is a | snp |
is | mentioned by |
dbSNP | rs199474785 |
dbSNP (classic) | rs199474785 |
ClinGen | rs199474785 |
ebi | rs199474785 |
HLI | rs199474785 |
Exac | rs199474785 |
Gnomad | rs199474785 |
Varsome | rs199474785 |
LitVar | rs199474785 |
Map | rs199474785 |
PheGenI | rs199474785 |
Biobank | rs199474785 |
1000 genomes | rs199474785 |
hgdp | rs199474785 |
ensembl | rs199474785 |
geneview | rs199474785 |
scholar | rs199474785 |
rs199474785 | |
pharmgkb | rs199474785 |
gwascentral | rs199474785 |
openSNP | rs199474785 |
23andMe | rs199474785 |
SNPshot | rs199474785 |
SNPdbe | rs199474785 |
MSV3d | rs199474785 |
GWAS Ctlg | rs199474785 |
Max Magnitude | 5.5 |
aka c.2530C>T, p.Leu844Phe and L844F
see NF1