rs41282065
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs41282065(A;A) |
Make rs41282065(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 74762028 |
Gene | SLC9A3R1 |
is a | snp |
is | mentioned by |
dbSNP | rs41282065 |
dbSNP (classic) | rs41282065 |
ClinGen | rs41282065 |
ebi | rs41282065 |
HLI | rs41282065 |
Exac | rs41282065 |
Gnomad | rs41282065 |
Varsome | rs41282065 |
LitVar | rs41282065 |
Map | rs41282065 |
PheGenI | rs41282065 |
Biobank | rs41282065 |
1000 genomes | rs41282065 |
hgdp | rs41282065 |
ensembl | rs41282065 |
geneview | rs41282065 |
scholar | rs41282065 |
rs41282065 | |
pharmgkb | rs41282065 |
gwascentral | rs41282065 |
openSNP | rs41282065 |
23andMe | rs41282065 |
SNPshot | rs41282065 |
SNPdbe | rs41282065 |
MSV3d | rs41282065 |
GWAS Ctlg | rs41282065 |
GMAF | 0.0009183 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs41282065(A;A) |
Alt | rs41282065(A;A) |
Reference | Rs41282065(G;G) |
Significance | Pathogenic |
Disease | Nephrolithiasis/osteoporosis not specified |
Variation | info |
Gene | SLC9A3R1 |
CLNDBN | Nephrolithiasis/osteoporosis, hypophosphatemic, 2 not specified |
Reversed | 0 |
HGVS | NC_000017.10:g.72758167G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005589.2, RCV000484640.1, |