rs151340629
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs151340629(G;T) |
Make rs151340629(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 50072553 |
Gene | CLCN5 |
is a | snp |
is | mentioned by |
dbSNP | rs151340629 |
dbSNP (classic) | rs151340629 |
ClinGen | rs151340629 |
ebi | rs151340629 |
HLI | rs151340629 |
Exac | rs151340629 |
Gnomad | rs151340629 |
Varsome | rs151340629 |
LitVar | rs151340629 |
Map | rs151340629 |
PheGenI | rs151340629 |
Biobank | rs151340629 |
1000 genomes | rs151340629 |
hgdp | rs151340629 |
ensembl | rs151340629 |
geneview | rs151340629 |
scholar | rs151340629 |
rs151340629 | |
pharmgkb | rs151340629 |
gwascentral | rs151340629 |
openSNP | rs151340629 |
23andMe | rs151340629 |
SNPshot | rs151340629 |
SNPdbe | rs151340629 |
MSV3d | rs151340629 |
GWAS Ctlg | rs151340629 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs151340629(T;T) |
Alt | rs151340629(T;T) |
Reference | Rs151340629(G;G) |
Significance | Pathogenic |
Disease | Nephrolithiasis |
Variation | info |
Gene | CLCN5 |
CLNDBN | Nephrolithiasis, X-linked recessive |
Reversed | 0 |
HGVS | NC_000023.10:g.49837208G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012574.24, |