rs727504978
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(ACAA;ACAA) | 0 | common in clinvar |
Make rs727504978(-;-) |
Make rs727504978(-;ACAA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 90725555 |
Gene | ADGRV1, LOC105379077 |
is a | snp |
is | mentioned by |
dbSNP | rs727504978 |
dbSNP (classic) | rs727504978 |
ClinGen | rs727504978 |
ebi | rs727504978 |
HLI | rs727504978 |
Exac | rs727504978 |
Gnomad | rs727504978 |
Varsome | rs727504978 |
LitVar | rs727504978 |
Map | rs727504978 |
PheGenI | rs727504978 |
Biobank | rs727504978 |
1000 genomes | rs727504978 |
hgdp | rs727504978 |
ensembl | rs727504978 |
geneview | rs727504978 |
scholar | rs727504978 |
rs727504978 | |
pharmgkb | rs727504978 |
gwascentral | rs727504978 |
openSNP | rs727504978 |
23andMe | rs727504978 |
SNPshot | rs727504978 |
SNPdbe | rs727504978 |
MSV3d | rs727504978 |
GWAS Ctlg | rs727504978 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504978(-;-) |
Alt | rs727504978(-;-) |
Reference | Rs727504978(ACAA;ACAA) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | ADGRV1 GPR98 |
CLNDBN | Usher syndrome, type 2C |
Reversed | 0 |
HGVS | NC_000005.9:g.90021372_90021375delACAA |
CLNSRC | |
CLNACC | RCV000156391.1, |