rs33955330
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs33955330(C;C) |
Make rs33955330(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5254665 |
Gene | HBG2 |
is a | snp |
is | mentioned by |
dbSNP | rs33955330 |
dbSNP (classic) | rs33955330 |
ClinGen | rs33955330 |
ebi | rs33955330 |
HLI | rs33955330 |
Exac | rs33955330 |
Gnomad | rs33955330 |
Varsome | rs33955330 |
LitVar | rs33955330 |
Map | rs33955330 |
PheGenI | rs33955330 |
Biobank | rs33955330 |
1000 genomes | rs33955330 |
hgdp | rs33955330 |
ensembl | rs33955330 |
geneview | rs33955330 |
scholar | rs33955330 |
rs33955330 | |
pharmgkb | rs33955330 |
gwascentral | rs33955330 |
openSNP | rs33955330 |
23andMe | rs33955330 |
SNPshot | rs33955330 |
SNPdbe | rs33955330 |
MSV3d | rs33955330 |
GWAS Ctlg | rs33955330 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33955330(A;A) rs33955330(C;C) |
Alt | rs33955330(A;A) rs33955330(C;C) |
Reference | Rs33955330(G;G) |
Significance | Other |
Disease | HEMOGLOBIN F (FUCHU) |
Variation | info |
Gene | HBG2 |
CLNDBN | HEMOGLOBIN F (FUCHU) |
Reversed | 1 |
HGVS | NC_000011.9:g.5275895C>G |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016103.3, |
[PMID 2420697] Fetal hemoglobin variants in 80,000 Japanese neonates: high prevalence of Hb F Yamaguchi (A gamma T 80 Asp----Asn).
[PMID 8144355] Hb F-Saskatoon or alpha 2G gamma (2)21(B3)Glu-->Lys observed in a North American Indian newborn.