rs118203981
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs118203981(C;C) |
Make rs118203981(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 42738540 |
Gene | CLDN19 |
is a | snp |
is | mentioned by |
dbSNP | rs118203981 |
dbSNP (classic) | rs118203981 |
ClinGen | rs118203981 |
ebi | rs118203981 |
HLI | rs118203981 |
Exac | rs118203981 |
Gnomad | rs118203981 |
Varsome | rs118203981 |
LitVar | rs118203981 |
Map | rs118203981 |
PheGenI | rs118203981 |
Biobank | rs118203981 |
1000 genomes | rs118203981 |
hgdp | rs118203981 |
ensembl | rs118203981 |
geneview | rs118203981 |
scholar | rs118203981 |
rs118203981 | |
pharmgkb | rs118203981 |
gwascentral | rs118203981 |
openSNP | rs118203981 |
23andMe | rs118203981 |
SNPshot | rs118203981 |
SNPdbe | rs118203981 |
MSV3d | rs118203981 |
GWAS Ctlg | rs118203981 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118203981(C;C) rs118203981(G;G) |
Alt | rs118203981(C;C) rs118203981(G;G) |
Reference | Rs118203981(T;T) |
Significance | Pathogenic |
Disease | Hypomagnesemia 5 |
Variation | info |
Gene | CLDN19 |
CLNDBN | Hypomagnesemia 5, renal, with ocular involvement |
Reversed | 1 |
HGVS | NC_000001.10:g.43204211A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001428.2, |