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rs11208257

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs11208257(C;C)
Make rs11208257(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position63648630
GenePGM1
is asnp
is mentioned by
dbSNPrs11208257
dbSNP (classic)rs11208257
ClinGenrs11208257
ebirs11208257
HLIrs11208257
Exacrs11208257
Gnomadrs11208257
Varsomers11208257
LitVarrs11208257
Maprs11208257
PheGenIrs11208257
Biobankrs11208257
1000 genomesrs11208257
hgdprs11208257
ensemblrs11208257
geneviewrs11208257
scholarrs11208257
googlers11208257
pharmgkbrs11208257
gwascentralrs11208257
openSNPrs11208257
23andMers11208257
SNPshotrs11208257
SNPdbers11208257
MSV3drs11208257
GWAS Ctlgrs11208257
Max Magnitude0
? (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 26511157OA-icon.png] 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,