rs672601249
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CAT;CAT) | 0 | common in clinvar |
Make rs672601249(-;-) |
Make rs672601249(-;ATC) |
Make rs672601249(ATC;ATC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 3115065 |
Gene | GNA11 |
is a | snp |
is | mentioned by |
dbSNP | rs672601249 |
dbSNP (classic) | rs672601249 |
ClinGen | rs672601249 |
ebi | rs672601249 |
HLI | rs672601249 |
Exac | rs672601249 |
Gnomad | rs672601249 |
Varsome | rs672601249 |
LitVar | rs672601249 |
Map | rs672601249 |
PheGenI | rs672601249 |
Biobank | rs672601249 |
1000 genomes | rs672601249 |
hgdp | rs672601249 |
ensembl | rs672601249 |
geneview | rs672601249 |
scholar | rs672601249 |
rs672601249 | |
pharmgkb | rs672601249 |
gwascentral | rs672601249 |
openSNP | rs672601249 |
23andMe | rs672601249 |
SNPshot | rs672601249 |
SNPdbe | rs672601249 |
MSV3d | rs672601249 |
GWAS Ctlg | rs672601249 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs672601249(-;-) |
Alt | rs672601249(-;-) |
Reference | Rs672601249(CAT;CAT) |
Significance | Pathogenic |
Disease | Hypocalciuric hypercalcemia |
Variation | info |
Gene | GNA11 |
CLNDBN | Hypocalciuric hypercalcemia, familial, type II |
Reversed | 0 |
HGVS | NC_000019.9:g.3115063_3115065delATC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000054474.26, |