rs121918587
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121918587(A;A) |
Make rs121918587(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 49612506 |
Gene | RHAG |
is a | snp |
is | mentioned by |
dbSNP | rs121918587 |
dbSNP (classic) | rs121918587 |
ClinGen | rs121918587 |
ebi | rs121918587 |
HLI | rs121918587 |
Exac | rs121918587 |
Gnomad | rs121918587 |
Varsome | rs121918587 |
LitVar | rs121918587 |
Map | rs121918587 |
PheGenI | rs121918587 |
Biobank | rs121918587 |
1000 genomes | rs121918587 |
hgdp | rs121918587 |
ensembl | rs121918587 |
geneview | rs121918587 |
scholar | rs121918587 |
rs121918587 | |
pharmgkb | rs121918587 |
gwascentral | rs121918587 |
openSNP | rs121918587 |
23andMe | rs121918587 |
SNPshot | rs121918587 |
SNPdbe | rs121918587 |
MSV3d | rs121918587 |
GWAS Ctlg | rs121918587 |
Merged from | Rs28933991 |
Max Magnitude | 0 |
aka c.836G>A (p.Gly279Glu or G279E)
23andMe name: i5900457
ClinVar | |
---|---|
Risk | rs121918587(A;A) |
Alt | rs121918587(A;A) |
Reference | Rs121918587(G;G) |
Significance | Pathogenic |
Disease | Rh-null hemolytic anemia |
Variation | info |
Gene | RHAG |
CLNDBN | Rh-null hemolytic anemia, regulator type |
Reversed | 1 |
HGVS | NC_000006.11:g.49580219C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013935.18, |