rs35994191
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in complete genomics |
Make rs35994191(A;A) |
Make rs35994191(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 177389 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs35994191 |
dbSNP (classic) | rs35994191 |
ClinGen | rs35994191 |
ebi | rs35994191 |
HLI | rs35994191 |
Exac | rs35994191 |
Gnomad | rs35994191 |
Varsome | rs35994191 |
LitVar | rs35994191 |
Map | rs35994191 |
PheGenI | rs35994191 |
Biobank | rs35994191 |
1000 genomes | rs35994191 |
hgdp | rs35994191 |
ensembl | rs35994191 |
geneview | rs35994191 |
scholar | rs35994191 |
rs35994191 | |
pharmgkb | rs35994191 |
gwascentral | rs35994191 |
openSNP | rs35994191 |
23andMe | rs35994191 |
SNPshot | rs35994191 |
SNPdbe | rs35994191 |
MSV3d | rs35994191 |
GWAS Ctlg | rs35994191 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35994191(A;A) |
Alt | rs35994191(A;A) |
Reference | Rs35994191(T;T) |
Significance | Other |
Disease | HEMOGLOBIN PAVIE |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN PAVIE |
Reversed | 0 |
HGVS | NC_000016.9:g.227388T>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017186.2, |
[PMID 2347082] A new hemoglobin variant found during investigations of diabetes mellitus: Hb Pavie [alpha 135 (H18) Val----Glu].