rs769987150
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs769987150(C;T) |
Make rs769987150(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 66705361 |
Gene | SPTBN2 |
is a | snp |
is | mentioned by |
dbSNP | rs769987150 |
dbSNP (classic) | rs769987150 |
ClinGen | rs769987150 |
ebi | rs769987150 |
HLI | rs769987150 |
Exac | rs769987150 |
Gnomad | rs769987150 |
Varsome | rs769987150 |
LitVar | rs769987150 |
Map | rs769987150 |
PheGenI | rs769987150 |
Biobank | rs769987150 |
1000 genomes | rs769987150 |
hgdp | rs769987150 |
ensembl | rs769987150 |
geneview | rs769987150 |
scholar | rs769987150 |
rs769987150 | |
pharmgkb | rs769987150 |
gwascentral | rs769987150 |
openSNP | rs769987150 |
23andMe | rs769987150 |
SNPshot | rs769987150 |
SNPdbe | rs769987150 |
MSV3d | rs769987150 |
GWAS Ctlg | rs769987150 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs769987150(A;A) rs769987150(T;T) |
Alt | rs769987150(A;A) rs769987150(T;T) |
Reference | Rs769987150(C;C) |
Significance | Pathogenic |
Disease | Inborn genetic diseases |
Variation | info |
Gene | SPTBN2 |
CLNDBN | Inborn genetic diseases |
Reversed | 0 |
HGVS | NC_000011.9:g.66472832C>A |
CLNSRC | |
CLNACC | RCV000190760.1, |