rs34150306
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs34150306(A;G) |
Make rs34150306(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5254374 |
Gene | HBG2 |
is a | snp |
is | mentioned by |
dbSNP | rs34150306 |
dbSNP (classic) | rs34150306 |
ClinGen | rs34150306 |
ebi | rs34150306 |
HLI | rs34150306 |
Exac | rs34150306 |
Gnomad | rs34150306 |
Varsome | rs34150306 |
LitVar | rs34150306 |
Map | rs34150306 |
PheGenI | rs34150306 |
Biobank | rs34150306 |
1000 genomes | rs34150306 |
hgdp | rs34150306 |
ensembl | rs34150306 |
geneview | rs34150306 |
scholar | rs34150306 |
rs34150306 | |
pharmgkb | rs34150306 |
gwascentral | rs34150306 |
openSNP | rs34150306 |
23andMe | rs34150306 |
SNPshot | rs34150306 |
SNPdbe | rs34150306 |
MSV3d | rs34150306 |
GWAS Ctlg | rs34150306 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34150306(G;G) rs34150306(T;T) |
Alt | rs34150306(G;G) rs34150306(T;T) |
Reference | Rs34150306(A;A) |
Significance | Other |
Disease | HEMOGLOBIN F (KENNESTONE) |
Variation | info |
Gene | HBG2 |
CLNDBN | HEMOGLOBIN F (KENNESTONE) |
Reversed | 1 |
HGVS | NC_000011.9:g.5275604T>C |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016105.1, |
[PMID 6192110] Hb F-Kennestone or alpha 2G gamma 2 (EF1)77 His leads to Arg observed in a Caucasian baby.