rs34474104
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs34474104(C;T) |
Make rs34474104(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5254417 |
Gene | HBG2 |
is a | snp |
is | mentioned by |
dbSNP | rs34474104 |
dbSNP (classic) | rs34474104 |
ClinGen | rs34474104 |
ebi | rs34474104 |
HLI | rs34474104 |
Exac | rs34474104 |
Gnomad | rs34474104 |
Varsome | rs34474104 |
LitVar | rs34474104 |
Map | rs34474104 |
PheGenI | rs34474104 |
Biobank | rs34474104 |
1000 genomes | rs34474104 |
hgdp | rs34474104 |
ensembl | rs34474104 |
geneview | rs34474104 |
scholar | rs34474104 |
rs34474104 | |
pharmgkb | rs34474104 |
gwascentral | rs34474104 |
openSNP | rs34474104 |
23andMe | rs34474104 |
SNPshot | rs34474104 |
SNPdbe | rs34474104 |
MSV3d | rs34474104 |
GWAS Ctlg | rs34474104 |
Merged from | Rs104894224 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34474104(T;T) |
Alt | rs34474104(T;T) |
Reference | Rs34474104(C;C) |
Significance | Pathogenic |
Disease | Cyanosis |
Variation | info |
Gene | HBG2 |
CLNDBN | Cyanosis, transient neonatal |
Reversed | 1 |
HGVS | NC_000011.9:g.5275647G>A |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016121.25, |
[PMID 2483933] Hb F-M-Osaka or alpha 2G gamma 2(63)(E7)His----Tyr in a Caucasian male infant.
[PMID 8811323] A new case of Hb F-M-Osaka [G gamma 63(E7)His-->Tyr] showed only benign neonatal cyanosis.
[PMID 12603090] Hb F-M-Osaka [Ggamma63(E7)His --> tyr] in a newborn from southwest France.