rs104893730
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs104893730(G;G) |
Make rs104893730(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 190404786 |
Gene | CLDN16 |
is a | snp |
is | mentioned by |
dbSNP | rs104893730 |
dbSNP (classic) | rs104893730 |
ClinGen | rs104893730 |
ebi | rs104893730 |
HLI | rs104893730 |
Exac | rs104893730 |
Gnomad | rs104893730 |
Varsome | rs104893730 |
LitVar | rs104893730 |
Map | rs104893730 |
PheGenI | rs104893730 |
Biobank | rs104893730 |
1000 genomes | rs104893730 |
hgdp | rs104893730 |
ensembl | rs104893730 |
geneview | rs104893730 |
scholar | rs104893730 |
rs104893730 | |
pharmgkb | rs104893730 |
gwascentral | rs104893730 |
openSNP | rs104893730 |
23andMe | rs104893730 |
SNPshot | rs104893730 |
SNPdbe | rs104893730 |
MSV3d | rs104893730 |
GWAS Ctlg | rs104893730 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104893730(G;G) |
Alt | rs104893730(G;G) |
Reference | Rs104893730(T;T) |
Significance | Pathogenic |
Disease | Primary hypomagnesemia |
Variation | info |
Gene | CLDN16 |
CLNDBN | Primary hypomagnesemia |
Reversed | 0 |
HGVS | NC_000003.11:g.190122575T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000006298.3, |