rs387906880
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs387906880(A;T) |
Make rs387906880(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 190409941 |
Gene | CLDN16 |
is a | snp |
is | mentioned by |
dbSNP | rs387906880 |
dbSNP (classic) | rs387906880 |
ClinGen | rs387906880 |
ebi | rs387906880 |
HLI | rs387906880 |
Exac | rs387906880 |
Gnomad | rs387906880 |
Varsome | rs387906880 |
LitVar | rs387906880 |
Map | rs387906880 |
PheGenI | rs387906880 |
Biobank | rs387906880 |
1000 genomes | rs387906880 |
hgdp | rs387906880 |
ensembl | rs387906880 |
geneview | rs387906880 |
scholar | rs387906880 |
rs387906880 | |
pharmgkb | rs387906880 |
gwascentral | rs387906880 |
openSNP | rs387906880 |
23andMe | rs387906880 |
SNPshot | rs387906880 |
SNPdbe | rs387906880 |
MSV3d | rs387906880 |
GWAS Ctlg | rs387906880 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906880(G;G) rs387906880(T;T) |
Alt | rs387906880(G;G) rs387906880(T;T) |
Reference | Rs387906880(A;A) |
Significance | Pathogenic |
Disease | Primary hypomagnesemia |
Variation | info |
Gene | CLDN16 |
CLNDBN | Primary hypomagnesemia |
Reversed | 0 |
HGVS | NC_000003.11:g.190127730A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023358.2, |