rs121918650
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121918650(C;C) |
Make rs121918650(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 64767691 |
Gene | SPTB |
is a | snp |
is | mentioned by |
dbSNP | rs121918650 |
dbSNP (classic) | rs121918650 |
ClinGen | rs121918650 |
ebi | rs121918650 |
HLI | rs121918650 |
Exac | rs121918650 |
Gnomad | rs121918650 |
Varsome | rs121918650 |
LitVar | rs121918650 |
Map | rs121918650 |
PheGenI | rs121918650 |
Biobank | rs121918650 |
1000 genomes | rs121918650 |
hgdp | rs121918650 |
ensembl | rs121918650 |
geneview | rs121918650 |
scholar | rs121918650 |
rs121918650 | |
pharmgkb | rs121918650 |
gwascentral | rs121918650 |
openSNP | rs121918650 |
23andMe | rs121918650 |
SNPshot | rs121918650 |
SNPdbe | rs121918650 |
MSV3d | rs121918650 |
GWAS Ctlg | rs121918650 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918650(A;A) rs121918650(C;C) |
Alt | rs121918650(A;A) rs121918650(C;C) |
Reference | Rs121918650(G;G) |
Significance | Pathogenic |
Disease | Elliptocytosis 3 |
Variation | info |
Gene | SPTB |
CLNDBN | Elliptocytosis 3 |
Reversed | 1 |
HGVS | NC_000014.8:g.65234409C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013692.17, |