rs587776928
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(G;G) | 0 | common in clinvar |
Make rs587776928(C;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 120627164 |
Gene | C1GALT1C1 |
is a | snp |
is | mentioned by |
dbSNP | rs587776928 |
dbSNP (classic) | rs587776928 |
ClinGen | rs587776928 |
ebi | rs587776928 |
HLI | rs587776928 |
Exac | rs587776928 |
Gnomad | rs587776928 |
Varsome | rs587776928 |
LitVar | rs587776928 |
Map | rs587776928 |
PheGenI | rs587776928 |
Biobank | rs587776928 |
1000 genomes | rs587776928 |
hgdp | rs587776928 |
ensembl | rs587776928 |
geneview | rs587776928 |
scholar | rs587776928 |
rs587776928 | |
pharmgkb | rs587776928 |
gwascentral | rs587776928 |
openSNP | rs587776928 |
23andMe | rs587776928 |
SNPshot | rs587776928 |
SNPdbe | rs587776928 |
MSV3d | rs587776928 |
GWAS Ctlg | rs587776928 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587776928(C;C) |
Alt | Rs587776928(C;C) |
Reference | Rs587776928(G;G) |
Significance | Pathogenic |
Disease | Polyagglutinable erythrocyte syndrome |
Variation | info |
Gene | C1GALT1C1 |
CLNDBN | Polyagglutinable erythrocyte syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.119761019C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032774.4, |