rs121918187
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121918187(A;A) |
Make rs121918187(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 45293214 |
Gene | UPK3A |
is a | snp |
is | mentioned by |
dbSNP | rs121918187 |
dbSNP (classic) | rs121918187 |
ClinGen | rs121918187 |
ebi | rs121918187 |
HLI | rs121918187 |
Exac | rs121918187 |
Gnomad | rs121918187 |
Varsome | rs121918187 |
LitVar | rs121918187 |
Map | rs121918187 |
PheGenI | rs121918187 |
Biobank | rs121918187 |
1000 genomes | rs121918187 |
hgdp | rs121918187 |
ensembl | rs121918187 |
geneview | rs121918187 |
scholar | rs121918187 |
rs121918187 | |
pharmgkb | rs121918187 |
gwascentral | rs121918187 |
openSNP | rs121918187 |
23andMe | rs121918187 |
SNPshot | rs121918187 |
SNPdbe | rs121918187 |
MSV3d | rs121918187 |
GWAS Ctlg | rs121918187 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918187(A;A) |
Alt | rs121918187(A;A) |
Reference | Rs121918187(G;G) |
Significance | Pathogenic |
Disease | Congenital anomalies of kidney and urinary tract 1 |
Variation | info |
Gene | UPK3A |
CLNDBN | Congenital anomalies of kidney and urinary tract 1, susceptibility to |
Reversed | 0 |
HGVS | NC_000022.10:g.45689095G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000923.3, |