rs33970907
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs33970907(A;G) |
Make rs33970907(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5249737 |
Gene | HBG1 |
is a | snp |
is | mentioned by |
dbSNP | rs33970907 |
dbSNP (classic) | rs33970907 |
ClinGen | rs33970907 |
ebi | rs33970907 |
HLI | rs33970907 |
Exac | rs33970907 |
Gnomad | rs33970907 |
Varsome | rs33970907 |
LitVar | rs33970907 |
Map | rs33970907 |
PheGenI | rs33970907 |
Biobank | rs33970907 |
1000 genomes | rs33970907 |
hgdp | rs33970907 |
ensembl | rs33970907 |
geneview | rs33970907 |
scholar | rs33970907 |
rs33970907 | |
pharmgkb | rs33970907 |
gwascentral | rs33970907 |
openSNP | rs33970907 |
23andMe | rs33970907 |
SNPshot | rs33970907 |
SNPdbe | rs33970907 |
MSV3d | rs33970907 |
GWAS Ctlg | rs33970907 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33970907(G;G) rs33970907(T;T) |
Alt | rs33970907(G;G) rs33970907(T;T) |
Reference | Rs33970907(A;A) |
Significance | Other |
Disease | HEMOGLOBIN F (KUALA LUMPUR) |
Variation | info |
Gene | HBG1 |
CLNDBN | HEMOGLOBIN F (KUALA LUMPUR) |
Reversed | 1 |
HGVS | NC_000011.9:g.5270967T>C |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000016159.3, |
[PMID 4765089] Structural identification of haemoglobin F Kuala Lumpur: alpha2 gamma2 22(B4)Asp leads to Gly; 136 Ala.