rs140749796
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs140749796(C;T) |
Make rs140749796(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 19 |
Position | 3121122 |
Gene | GNA11 |
is a | snp |
is | mentioned by |
dbSNP | rs140749796 |
dbSNP (classic) | rs140749796 |
ClinGen | rs140749796 |
ebi | rs140749796 |
HLI | rs140749796 |
Exac | rs140749796 |
Gnomad | rs140749796 |
Varsome | rs140749796 |
LitVar | rs140749796 |
Map | rs140749796 |
PheGenI | rs140749796 |
Biobank | rs140749796 |
1000 genomes | rs140749796 |
hgdp | rs140749796 |
ensembl | rs140749796 |
geneview | rs140749796 |
scholar | rs140749796 |
rs140749796 | |
pharmgkb | rs140749796 |
gwascentral | rs140749796 |
openSNP | rs140749796 |
23andMe | rs140749796 |
SNPshot | rs140749796 |
SNPdbe | rs140749796 |
MSV3d | rs140749796 |
GWAS Ctlg | rs140749796 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs140749796(G;G) rs140749796(T;T) |
Alt | rs140749796(G;G) rs140749796(T;T) |
Reference | Rs140749796(C;C) |
Significance | Pathogenic |
Disease | Hypocalcemia |
Variation | info |
Gene | GNA11 |
CLNDBN | Hypocalcemia, autosomal dominant 2 |
Reversed | 0 |
HGVS | NC_000019.9:g.3121120C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000054477.23, |