rs33984863
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs33984863(C;C) |
Make rs33984863(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5225633 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33984863 |
dbSNP (classic) | rs33984863 |
ClinGen | rs33984863 |
ebi | rs33984863 |
HLI | rs33984863 |
Exac | rs33984863 |
Gnomad | rs33984863 |
Varsome | rs33984863 |
LitVar | rs33984863 |
Map | rs33984863 |
PheGenI | rs33984863 |
Biobank | rs33984863 |
1000 genomes | rs33984863 |
hgdp | rs33984863 |
ensembl | rs33984863 |
geneview | rs33984863 |
scholar | rs33984863 |
rs33984863 | |
pharmgkb | rs33984863 |
gwascentral | rs33984863 |
openSNP | rs33984863 |
23andMe | rs33984863 |
SNPshot | rs33984863 |
SNPdbe | rs33984863 |
MSV3d | rs33984863 |
GWAS Ctlg | rs33984863 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33984863(A;A) rs33984863(C;C) rs33984863(T;T) |
Alt | rs33984863(A;A) rs33984863(C;C) rs33984863(T;T) |
Reference | Rs33984863(G;G) |
Significance | Other |
Disease | HEMOGLOBIN 'T LANGE LAND |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN 'T LANGE LAND |
Reversed | 1 |
HGVS | NC_000011.9:g.5246863C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016857.2, |
[PMID 20353351] Hb Perpignan [beta136(H14)Gly-->Ser], a silent variant associated with normal hematology.
[PMID 11570727] Hb 't Lange Land [beta136(H14)Gly --> Arg]: a new hemoglobin variant described in a Dutch patient of Chinese origin.