rs35973315
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs35973315(A;G) |
Make rs35973315(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226773 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs35973315 |
dbSNP (classic) | rs35973315 |
ClinGen | rs35973315 |
ebi | rs35973315 |
HLI | rs35973315 |
Exac | rs35973315 |
Gnomad | rs35973315 |
Varsome | rs35973315 |
LitVar | rs35973315 |
Map | rs35973315 |
PheGenI | rs35973315 |
Biobank | rs35973315 |
1000 genomes | rs35973315 |
hgdp | rs35973315 |
ensembl | rs35973315 |
geneview | rs35973315 |
scholar | rs35973315 |
rs35973315 | |
pharmgkb | rs35973315 |
gwascentral | rs35973315 |
openSNP | rs35973315 |
23andMe | rs35973315 |
SNPshot | rs35973315 |
SNPdbe | rs35973315 |
MSV3d | rs35973315 |
GWAS Ctlg | rs35973315 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35973315(G;G) |
Alt | rs35973315(G;G) |
Reference | Rs35973315(A;A) |
Significance | Other |
Disease | HEMOGLOBIN TIANSHUI |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN TIANSHUI |
Reversed | 1 |
HGVS | NC_000011.9:g.5248003T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016624.5, |
[PMID 2079437] A new slow-moving hemoglobin variant Hb Tianshui or alpha 2 beta(2)39(C5)Gln----Arg, observed in a Chinese family living in Gansu.