rs104893959
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs104893959(G;T) |
Make rs104893959(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 10877343 |
Gene | GCM2 |
is a | snp |
is | mentioned by |
dbSNP | rs104893959 |
dbSNP (classic) | rs104893959 |
ClinGen | rs104893959 |
ebi | rs104893959 |
HLI | rs104893959 |
Exac | rs104893959 |
Gnomad | rs104893959 |
Varsome | rs104893959 |
LitVar | rs104893959 |
Map | rs104893959 |
PheGenI | rs104893959 |
Biobank | rs104893959 |
1000 genomes | rs104893959 |
hgdp | rs104893959 |
ensembl | rs104893959 |
geneview | rs104893959 |
scholar | rs104893959 |
rs104893959 | |
pharmgkb | rs104893959 |
gwascentral | rs104893959 |
openSNP | rs104893959 |
23andMe | rs104893959 |
SNPshot | rs104893959 |
SNPdbe | rs104893959 |
MSV3d | rs104893959 |
GWAS Ctlg | rs104893959 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104893959(A;A) rs104893959(T;T) |
Alt | rs104893959(A;A) rs104893959(T;T) |
Reference | Rs104893959(G;G) |
Significance | Pathogenic |
Disease | Hypoparathyroidism familial isolated |
Variation | info |
Gene | GCM2 |
CLNDBN | Hypoparathyroidism familial isolated |
Reversed | 1 |
HGVS | NC_000006.11:g.10877576C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000006464.4, |