rs33935527
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs33935527(C;T) |
Make rs33935527(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5225690 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33935527 |
dbSNP (classic) | rs33935527 |
ClinGen | rs33935527 |
ebi | rs33935527 |
HLI | rs33935527 |
Exac | rs33935527 |
Gnomad | rs33935527 |
Varsome | rs33935527 |
LitVar | rs33935527 |
Map | rs33935527 |
PheGenI | rs33935527 |
Biobank | rs33935527 |
1000 genomes | rs33935527 |
hgdp | rs33935527 |
ensembl | rs33935527 |
geneview | rs33935527 |
scholar | rs33935527 |
rs33935527 | |
pharmgkb | rs33935527 |
gwascentral | rs33935527 |
openSNP | rs33935527 |
23andMe | rs33935527 |
SNPshot | rs33935527 |
SNPdbe | rs33935527 |
MSV3d | rs33935527 |
GWAS Ctlg | rs33935527 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33935527(A;A) rs33935527(G;G) rs33935527(T;T) |
Alt | rs33935527(A;A) rs33935527(G;G) rs33935527(T;T) |
Reference | Rs33935527(C;C) |
Significance | Untested |
Disease | |
Variation | info |
Gene | HBB |
CLNDBN | |
Reversed | 1 |
HGVS | NC_000011.9:g.5246920G>A; NC_000011.9:g.5246920G>C; NC_000011.9:g.5246920G>T |
CLNSRC | |
CLNACC |
[PMID 10870882] Hb Tsukumi [beta117(G19)His-->Tyr]: a new hemoglobin variant found in a Japanese male.
[PMID 11300344] Hb Tsukumi [beta117(G19)His-->Tyr] found in a Moroccan woman.
[PMID 10081991] Hb Brent [beta117(G19)His-->Asn]: a new hemoglobin variant found during routine antenatal screening.
[PMID 19205973] Hb North York [beta 117(G19)His-->Asp]: a new beta chain hemoglobin variant.