rs121918611
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121918611(A;A) |
Make rs121918611(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 177386473 |
Gene | SLC34A1 |
is a | snp |
is | mentioned by |
dbSNP | rs121918611 |
dbSNP (classic) | rs121918611 |
ClinGen | rs121918611 |
ebi | rs121918611 |
HLI | rs121918611 |
Exac | rs121918611 |
Gnomad | rs121918611 |
Varsome | rs121918611 |
LitVar | rs121918611 |
Map | rs121918611 |
PheGenI | rs121918611 |
Biobank | rs121918611 |
1000 genomes | rs121918611 |
hgdp | rs121918611 |
ensembl | rs121918611 |
geneview | rs121918611 |
scholar | rs121918611 |
rs121918611 | |
pharmgkb | rs121918611 |
gwascentral | rs121918611 |
openSNP | rs121918611 |
23andMe | rs121918611 |
SNPshot | rs121918611 |
SNPdbe | rs121918611 |
MSV3d | rs121918611 |
GWAS Ctlg | rs121918611 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918611(A;A) rs121918611(C;C) |
Alt | rs121918611(A;A) rs121918611(C;C) |
Reference | Rs121918611(G;G) |
Significance | Pathogenic |
Disease | Nephrolithiasis/osteoporosis |
Variation | info |
Gene | SLC34A1 |
CLNDBN | Nephrolithiasis/osteoporosis, hypophosphatemic, 1 |
Reversed | 0 |
HGVS | NC_000005.9:g.176813474G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013795.25, |