rs587777321
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587777321(C;T) |
Make rs587777321(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 4 |
Position | 155711210 |
Gene | GUCY1A3 |
is a | snp |
is | mentioned by |
dbSNP | rs587777321 |
dbSNP (classic) | rs587777321 |
ClinGen | rs587777321 |
ebi | rs587777321 |
HLI | rs587777321 |
Exac | rs587777321 |
Gnomad | rs587777321 |
Varsome | rs587777321 |
LitVar | rs587777321 |
Map | rs587777321 |
PheGenI | rs587777321 |
Biobank | rs587777321 |
1000 genomes | rs587777321 |
hgdp | rs587777321 |
ensembl | rs587777321 |
geneview | rs587777321 |
scholar | rs587777321 |
rs587777321 | |
pharmgkb | rs587777321 |
gwascentral | rs587777321 |
openSNP | rs587777321 |
23andMe | rs587777321 |
SNPshot | rs587777321 |
SNPdbe | rs587777321 |
MSV3d | rs587777321 |
GWAS Ctlg | rs587777321 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777321(T;T) |
Alt | rs587777321(T;T) |
Reference | Rs587777321(C;C) |
Significance | Pathogenic |
Disease | Moyamoya disease 6 with achalasia |
Variation | info |
Gene | GUCY1A3 |
CLNDBN | Moyamoya disease 6 with achalasia |
Reversed | 0 |
HGVS | NC_000004.11:g.156632362C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000114953.2, |