rs772011426
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(ACTT;ACTT) | 0 | common in clinvar |
Make rs772011426(-;-) |
Make rs772011426(-;ACTT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 31062573 |
Gene | TRPM1 |
is a | snp |
is | mentioned by |
dbSNP | rs772011426 |
dbSNP (classic) | rs772011426 |
ClinGen | rs772011426 |
ebi | rs772011426 |
HLI | rs772011426 |
Exac | rs772011426 |
Gnomad | rs772011426 |
Varsome | rs772011426 |
LitVar | rs772011426 |
Map | rs772011426 |
PheGenI | rs772011426 |
Biobank | rs772011426 |
1000 genomes | rs772011426 |
hgdp | rs772011426 |
ensembl | rs772011426 |
geneview | rs772011426 |
scholar | rs772011426 |
rs772011426 | |
pharmgkb | rs772011426 |
gwascentral | rs772011426 |
openSNP | rs772011426 |
23andMe | rs772011426 |
SNPshot | rs772011426 |
SNPdbe | rs772011426 |
MSV3d | rs772011426 |
GWAS Ctlg | rs772011426 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs772011426(-;-) |
Alt | rs772011426(-;-) |
Reference | Rs772011426(ACTT;ACTT) |
Significance | Pathogenic |
Disease | Congenital stationary night blindness |
Variation | info |
Gene | TRPM1 |
CLNDBN | Congenital stationary night blindness, type 1C |
Reversed | 0 |
HGVS | NC_000015.9:g.31354776_31354779delACTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023312.4, |