rs61755786
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AAG;AAG) | 0 | common in clinvar |
(AGA;AGA) | 0 | common in clinvar |
(D;D) | 0 | miscall by 23andMe; data is not reliable for this SNP (but you probably have the completely normal genotype) |
Make rs61755786(-;-) |
Make rs61755786(-;AAG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 42721873 |
Gene | PRPH2 |
is a | snp |
is | mentioned by |
dbSNP | rs61755786 |
dbSNP (classic) | rs61755786 |
ClinGen | rs61755786 |
ebi | rs61755786 |
HLI | rs61755786 |
Exac | rs61755786 |
Gnomad | rs61755786 |
Varsome | rs61755786 |
LitVar | rs61755786 |
Map | rs61755786 |
PheGenI | rs61755786 |
Biobank | rs61755786 |
1000 genomes | rs61755786 |
hgdp | rs61755786 |
ensembl | rs61755786 |
geneview | rs61755786 |
scholar | rs61755786 |
rs61755786 | |
pharmgkb | rs61755786 |
gwascentral | rs61755786 |
openSNP | rs61755786 |
23andMe | rs61755786 |
SNPshot | rs61755786 |
SNPdbe | rs61755786 |
MSV3d | rs61755786 |
GWAS Ctlg | rs61755786 |
Merged from | Rs672601327 |
Max Magnitude | 0 |
aka c.461_463delAGA (p.Lys154del)
ClinVar | |
---|---|
Risk | Rs61755786(AGA;AGA) rs61755786(-;-) |
Alt | Rs61755786(AGA;AGA) rs61755786(-;-) |
Reference | Rs61755786(AAG;AAG) |
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, |