rs28937883
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs28937883(G;T) |
Make rs28937883(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 21325943 |
Gene | RPGRIP1 |
is a | snp |
is | mentioned by |
dbSNP | rs28937883 |
dbSNP (classic) | rs28937883 |
ClinGen | rs28937883 |
ebi | rs28937883 |
HLI | rs28937883 |
Exac | rs28937883 |
Gnomad | rs28937883 |
Varsome | rs28937883 |
LitVar | rs28937883 |
Map | rs28937883 |
PheGenI | rs28937883 |
Biobank | rs28937883 |
1000 genomes | rs28937883 |
hgdp | rs28937883 |
ensembl | rs28937883 |
geneview | rs28937883 |
scholar | rs28937883 |
rs28937883 | |
pharmgkb | rs28937883 |
gwascentral | rs28937883 |
openSNP | rs28937883 |
23andMe | rs28937883 |
SNPshot | rs28937883 |
SNPdbe | rs28937883 |
MSV3d | rs28937883 |
GWAS Ctlg | rs28937883 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28937883(A;A) rs28937883(T;T) |
Alt | rs28937883(A;A) rs28937883(T;T) |
Reference | Rs28937883(G;G) |
Significance | Pathogenic |
Disease | Cone-rod dystrophy 13 not provided |
Variation | info |
Gene | RPGRIP1 |
CLNDBN | Cone-rod dystrophy 13 not provided |
Reversed | 0 |
HGVS | NC_000014.8:g.21794102G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005274.4, RCV000086245.1, |