rs267607179
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs267607179(G;T) |
Make rs267607179(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 40924482 |
Gene | XPNPEP3 |
is a | snp |
is | mentioned by |
dbSNP | rs267607179 |
dbSNP (classic) | rs267607179 |
ClinGen | rs267607179 |
ebi | rs267607179 |
HLI | rs267607179 |
Exac | rs267607179 |
Gnomad | rs267607179 |
Varsome | rs267607179 |
LitVar | rs267607179 |
Map | rs267607179 |
PheGenI | rs267607179 |
Biobank | rs267607179 |
1000 genomes | rs267607179 |
hgdp | rs267607179 |
ensembl | rs267607179 |
geneview | rs267607179 |
scholar | rs267607179 |
rs267607179 | |
pharmgkb | rs267607179 |
gwascentral | rs267607179 |
openSNP | rs267607179 |
23andMe | rs267607179 |
SNPshot | rs267607179 |
SNPdbe | rs267607179 |
MSV3d | rs267607179 |
GWAS Ctlg | rs267607179 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607179(T;T) |
Alt | rs267607179(T;T) |
Reference | Rs267607179(G;G) |
Significance | Pathogenic |
Disease | Nephronophthisis-like nephropathy 1 |
Variation | info |
Gene | XPNPEP3 |
CLNDBN | Nephronophthisis-like nephropathy 1 |
Reversed | 0 |
HGVS | NC_000022.10:g.41320486G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000068.3, |