rs672601327
From SNPedia
Merged into | rs61755786 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGA;AGA) | 0 | common in clinvar |
Make rs672601327(-;-) |
Make rs672601327(-;AGA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 42721872 |
Gene | PRPH2 |
is a | snp |
is | mentioned by |
dbSNP | rs672601327 |
dbSNP (classic) | rs672601327 |
ClinGen | rs672601327 |
ebi | rs672601327 |
HLI | rs672601327 |
Exac | rs672601327 |
Gnomad | rs672601327 |
Varsome | rs672601327 |
LitVar | rs672601327 |
Map | rs672601327 |
PheGenI | rs672601327 |
Biobank | rs672601327 |
1000 genomes | rs672601327 |
hgdp | rs672601327 |
ensembl | rs672601327 |
geneview | rs672601327 |
scholar | rs672601327 |
rs672601327 | |
pharmgkb | rs672601327 |
gwascentral | rs672601327 |
openSNP | rs672601327 |
23andMe | rs672601327 |
SNPshot | rs672601327 |
SNPdbe | rs672601327 |
MSV3d | rs672601327 |
GWAS Ctlg | rs672601327 |
Status | Merged into rs61755786 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs672601327(AGA;AGA) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 7 not provided Patterned dystrophy of retinal pigment epithelium |
Variation | info |
Gene | PRPH2 |
CLNDBN | Retinitis pigmentosa 7 not provided Patterned dystrophy of retinal pigment epithelium |
Reversed | 1 |
HGVS | NC_000006.11:g.42689610_42689612delTCT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014064.25, RCV000084974.1, RCV000149467.2, |