rs11208257
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs11208257(C;C) |
Make rs11208257(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 63648630 |
Gene | PGM1 |
is a | snp |
is | mentioned by |
dbSNP | rs11208257 |
dbSNP (classic) | rs11208257 |
ClinGen | rs11208257 |
ebi | rs11208257 |
HLI | rs11208257 |
Exac | rs11208257 |
Gnomad | rs11208257 |
Varsome | rs11208257 |
LitVar | rs11208257 |
Map | rs11208257 |
PheGenI | rs11208257 |
Biobank | rs11208257 |
1000 genomes | rs11208257 |
hgdp | rs11208257 |
ensembl | rs11208257 |
geneview | rs11208257 |
scholar | rs11208257 |
rs11208257 | |
pharmgkb | rs11208257 |
gwascentral | rs11208257 |
openSNP | rs11208257 |
23andMe | rs11208257 |
SNPshot | rs11208257 |
SNPdbe | rs11208257 |
MSV3d | rs11208257 |
GWAS Ctlg | rs11208257 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
rs11208257, also known as c.1258T > C, p.Tyr420His and Y420H, is a non-synonymous variant in the PGM1 gene on chromosome 1.
[PMID 26511157] Genome-wide analysis correlates Ayurveda Prakriti. The practice of Ayurveda, the traditional medicine of India, is based on the concept of three major constitutional types (Vata, Pitta and Kapha) defined as “Prakriti”. This article concludes that Vata individuals as a group have a lower rs11208257(C) allele frequency than the Pitta and Kapha phenotypes, who are more in line with the overall Indian population as well as Europeans.
ClinVar | |
---|---|
Risk | rs11208257(C;C) |
Alt | rs11208257(C;C) |
Reference | Rs11208257(T;T) |
Significance | Non-pathogenic |
Disease | Congenital disorder of glycosylation type 1t Congenital disorder of glycosylation not specified |
Variation | info |
Gene | PGM1 |
CLNDBN | Congenital disorder of glycosylation type 1t Congenital disorder of glycosylation not specified |
Reversed | 0 |
HGVS | NC_000001.10:g.64114301T>C |
CLNSRC | |
CLNACC | RCV000277905.1, RCV000367456.1, RCV000419125.1, |