rs35059618
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 3 | Alpha-thalassemia allele carrier |
(T;T) | 0 | common in complete genomics |
Make rs35059618(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 177295 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs35059618 |
dbSNP (classic) | rs35059618 |
ClinGen | rs35059618 |
ebi | rs35059618 |
HLI | rs35059618 |
Exac | rs35059618 |
Gnomad | rs35059618 |
Varsome | rs35059618 |
LitVar | rs35059618 |
Map | rs35059618 |
PheGenI | rs35059618 |
Biobank | rs35059618 |
1000 genomes | rs35059618 |
hgdp | rs35059618 |
ensembl | rs35059618 |
geneview | rs35059618 |
scholar | rs35059618 |
rs35059618 | |
pharmgkb | rs35059618 |
gwascentral | rs35059618 |
openSNP | rs35059618 |
23andMe | rs35059618 |
SNPshot | rs35059618 |
SNPdbe | rs35059618 |
MSV3d | rs35059618 |
GWAS Ctlg | rs35059618 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs35059618(A;A) |
Alt | rs35059618(A;A) |
Reference | Rs35059618(T;T) |
Significance | Other |
Disease | HEMOGLOBIN OEGSTGEEST |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN OEGSTGEEST |
Reversed | 0 |
HGVS | NC_000016.9:g.227294T>A |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000017236.2, |
[PMID 16114179] Hb Oegstgeest [alpha104(G11)Cys-->Ser (alpha1)]. A new hemoglobin variant associated with a mild alpha-thalassemia phenotype.