rs797045165
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs797045165(C;T) |
Make rs797045165(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 20991686 |
Gene | LZTR1 |
is a | snp |
is | mentioned by |
dbSNP | rs797045165 |
dbSNP (classic) | rs797045165 |
ClinGen | rs797045165 |
ebi | rs797045165 |
HLI | rs797045165 |
Exac | rs797045165 |
Gnomad | rs797045165 |
Varsome | rs797045165 |
LitVar | rs797045165 |
Map | rs797045165 |
PheGenI | rs797045165 |
Biobank | rs797045165 |
1000 genomes | rs797045165 |
hgdp | rs797045165 |
ensembl | rs797045165 |
geneview | rs797045165 |
scholar | rs797045165 |
rs797045165 | |
pharmgkb | rs797045165 |
gwascentral | rs797045165 |
openSNP | rs797045165 |
23andMe | rs797045165 |
SNPshot | rs797045165 |
SNPdbe | rs797045165 |
MSV3d | rs797045165 |
GWAS Ctlg | rs797045165 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045165(T;T) |
Alt | rs797045165(T;T) |
Reference | Rs797045165(C;C) |
Significance | Pathogenic |
Disease | Noonan syndrome 10 |
Variation | info |
Gene | LZTR1 |
CLNDBN | Noonan syndrome 10 |
Reversed | 0 |
HGVS | NC_000022.10:g.21345975C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000191028.2, |