rs35849348
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs35849348(A;A) |
Make rs35849348(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5232998 |
Gene | HBD |
is a | snp |
is | mentioned by |
dbSNP | rs35849348 |
dbSNP (classic) | rs35849348 |
ClinGen | rs35849348 |
ebi | rs35849348 |
HLI | rs35849348 |
Exac | rs35849348 |
Gnomad | rs35849348 |
Varsome | rs35849348 |
LitVar | rs35849348 |
Map | rs35849348 |
PheGenI | rs35849348 |
Biobank | rs35849348 |
1000 genomes | rs35849348 |
hgdp | rs35849348 |
ensembl | rs35849348 |
geneview | rs35849348 |
scholar | rs35849348 |
rs35849348 | |
pharmgkb | rs35849348 |
gwascentral | rs35849348 |
openSNP | rs35849348 |
23andMe | rs35849348 |
SNPshot | rs35849348 |
SNPdbe | rs35849348 |
MSV3d | rs35849348 |
GWAS Ctlg | rs35849348 |
GMAF | 0.0009183 |
Max Magnitude | 0 |
? | (A;G) (G;G) | |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs35849348(A;A) |
Alt | rs35849348(A;A) |
Reference | Rs35849348(G;G) |
Significance | Other |
Disease | HEMOGLOBIN A(2) BABINGA |
Variation | info |
Gene | HBD |
CLNDBN | HEMOGLOBIN A(2) BABINGA |
Reversed | 1 |
HGVS | NC_000011.9:g.5254228C>T |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016189.2, |
[PMID 5678016] Haemoglobin Babinga (delta 136 glycine-aspartic acid): a new delta chain variant.
[PMID 5766005] Hemoglobin Babinga or alpha 2 delta 2 136 Gly--Asp observed in the American Negro.
[PMID 6207140] Hb A2-Babinga, Hb S, and HPFH in members of a family from Creola, Alabama.