rs779331797
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs779331797(C;T) |
Make rs779331797(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 218661854 |
Gene | BCS1L |
is a | snp |
is | mentioned by |
dbSNP | rs779331797 |
dbSNP (classic) | rs779331797 |
ClinGen | rs779331797 |
ebi | rs779331797 |
HLI | rs779331797 |
Exac | rs779331797 |
Gnomad | rs779331797 |
Varsome | rs779331797 |
LitVar | rs779331797 |
Map | rs779331797 |
PheGenI | rs779331797 |
Biobank | rs779331797 |
1000 genomes | rs779331797 |
hgdp | rs779331797 |
ensembl | rs779331797 |
geneview | rs779331797 |
scholar | rs779331797 |
rs779331797 | |
pharmgkb | rs779331797 |
gwascentral | rs779331797 |
openSNP | rs779331797 |
23andMe | rs779331797 |
SNPshot | rs779331797 |
SNPdbe | rs779331797 |
MSV3d | rs779331797 |
GWAS Ctlg | rs779331797 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs779331797(T;T) |
Alt | rs779331797(T;T) |
Reference | Rs779331797(C;C) |
Significance | Probable-Pathogenic |
Disease | GRACILE syndrome |
Variation | info |
Gene | BCS1L |
CLNDBN | GRACILE syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.219526577C>T |
CLNSRC | |
CLNACC | RCV000409533.1, |