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rs17279437

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common on affy axiom data
Make rs17279437(A;A)
Make rs17279437(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position45772602
GeneSLC6A20
is asnp
is mentioned by
dbSNPrs17279437
ebirs17279437
HLIrs17279437
Exacrs17279437
Varsomers17279437
Maprs17279437
PheGenIrs17279437
hapmaprs17279437
1000 genomesrs17279437
hgdprs17279437
ensemblrs17279437
gopubmedrs17279437
geneviewrs17279437
scholarrs17279437
googlers17279437
pharmgkbrs17279437
gwascentralrs17279437
openSNPrs17279437
23andMers17279437
23andMe allrs17279437
SNP Nexus

SNPshotrs17279437
SNPdbers17279437
MSV3drs17279437
GWAS Ctlgrs17279437
GMAF0.04637
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM605616
Desc
Variant0001
Relatedalso
GWAS snp
PMID [PMID 21572414]
Trait
Title A genome-wide association study of metabolic traits in human urine.
Risk Allele A
P-val 3E-19
Odds Ratio None None


GET Evidence
SLC6A20-T199M
aa_change Thr199Met
aa_change_short T199M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0712764
summary



ClinVar
Risk rs17279437(A;A)
Alt rs17279437(A;A)
Reference rs17279437(G;G)
Significance Pathogenic
Disease Hyperglycinuria Iminoglycinuria
Variation info
Gene SLC6A20
CLNDBN Hyperglycinuria Iminoglycinuria, digenic
Reversed 0
HGVS NC_000003.11:g.45814094G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005117.2, RCV000005118.2,



GWAS snp
PMID [PMID 24816252OA-icon.png]
Trait Blood metabolite levels
Title An atlas of genetic influences on human blood metabolites.
Risk Allele A
P-val 1E-20
Odds Ratio .06 [0.047-0.071] unit increase