rs267606609
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GC;GC) | 0 | common in clinvar |
Make rs267606609(AA;AA) |
Make rs267606609(AA;GC) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 31200478 |
Gene | NF1 |
is a | snp |
is | mentioned by |
dbSNP | rs267606609 |
dbSNP (classic) | rs267606609 |
ClinGen | rs267606609 |
ebi | rs267606609 |
HLI | rs267606609 |
Exac | rs267606609 |
Gnomad | rs267606609 |
Varsome | rs267606609 |
LitVar | rs267606609 |
Map | rs267606609 |
PheGenI | rs267606609 |
Biobank | rs267606609 |
1000 genomes | rs267606609 |
hgdp | rs267606609 |
ensembl | rs267606609 |
geneview | rs267606609 |
scholar | rs267606609 |
rs267606609 | |
pharmgkb | rs267606609 |
gwascentral | rs267606609 |
openSNP | rs267606609 |
23andMe | rs267606609 |
SNPshot | rs267606609 |
SNPdbe | rs267606609 |
MSV3d | rs267606609 |
GWAS Ctlg | rs267606609 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606609(AA;AA) |
Alt | rs267606609(AA;AA) |
Reference | Rs267606609(GC;GC) |
Significance | Pathogenic |
Disease | Neurofibromatosis-Noonan syndrome |
Variation | info |
Gene | NF1 |
CLNDBN | Neurofibromatosis-Noonan syndrome |
Reversed | 0 |
HGVS | NC_000017.10:g.29527496_29527497delGCinsAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000396.4, |