rs121912550
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121912550(A;A) |
Make rs121912550(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 128398557 |
Gene | IMPDH1 |
is a | snp |
is | mentioned by |
dbSNP | rs121912550 |
dbSNP (classic) | rs121912550 |
ClinGen | rs121912550 |
ebi | rs121912550 |
HLI | rs121912550 |
Exac | rs121912550 |
Gnomad | rs121912550 |
Varsome | rs121912550 |
LitVar | rs121912550 |
Map | rs121912550 |
PheGenI | rs121912550 |
Biobank | rs121912550 |
1000 genomes | rs121912550 |
hgdp | rs121912550 |
ensembl | rs121912550 |
geneview | rs121912550 |
scholar | rs121912550 |
rs121912550 | |
pharmgkb | rs121912550 |
gwascentral | rs121912550 |
openSNP | rs121912550 |
23andMe | rs121912550 |
SNPshot | rs121912550 |
SNPdbe | rs121912550 |
MSV3d | rs121912550 |
GWAS Ctlg | rs121912550 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121912550(A;A) |
Alt | rs121912550(A;A) |
Reference | Rs121912550(G;G) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 10 not provided |
Variation | info |
Gene | IMPDH1 |
CLNDBN | Retinitis pigmentosa 10 not provided |
Reversed | 1 |
HGVS | NC_000007.13:g.128038611C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015959.25, RCV000255540.1, |