rs35826780
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in complete genomics |
Make rs35826780(G;G) |
Make rs35826780(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5253330 |
Gene | HBG2 |
is a | snp |
is | mentioned by |
dbSNP | rs35826780 |
dbSNP (classic) | rs35826780 |
ClinGen | rs35826780 |
ebi | rs35826780 |
HLI | rs35826780 |
Exac | rs35826780 |
Gnomad | rs35826780 |
Varsome | rs35826780 |
LitVar | rs35826780 |
Map | rs35826780 |
PheGenI | rs35826780 |
Biobank | rs35826780 |
1000 genomes | rs35826780 |
hgdp | rs35826780 |
ensembl | rs35826780 |
geneview | rs35826780 |
scholar | rs35826780 |
rs35826780 | |
pharmgkb | rs35826780 |
gwascentral | rs35826780 |
openSNP | rs35826780 |
23andMe | rs35826780 |
SNPshot | rs35826780 |
SNPdbe | rs35826780 |
MSV3d | rs35826780 |
GWAS Ctlg | rs35826780 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35826780(A;A) rs35826780(G;G) |
Alt | rs35826780(A;A) rs35826780(G;G) |
Reference | Rs35826780(T;T) |
Significance | Other |
Disease | HEMOGLOBIN F (POOLE) |
Variation | info |
Gene | HBG2 |
CLNDBN | HEMOGLOBIN F (POOLE) |
Reversed | 1 |
HGVS | NC_000011.9:g.5274560A>C |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016116.1, |
[PMID 1127124] A new cause of haemolytic anaemia in the newborn. A description of an unstable fetal haemoglobin: F Poole, alpha2-G-gamma2 130 trptophan yeilds glycine.