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rs2233580

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2233580(A;A)
Make rs2233580(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position127613496
GenePAX4
is asnp
is mentioned by
dbSNPrs2233580
ebirs2233580
HLIrs2233580
Exacrs2233580
Varsomers2233580
Maprs2233580
PheGenIrs2233580
hapmaprs2233580
1000 genomesrs2233580
hgdprs2233580
ensemblrs2233580
gopubmedrs2233580
geneviewrs2233580
scholarrs2233580
googlers2233580
pharmgkbrs2233580
gwascentralrs2233580
openSNPrs2233580
23andMers2233580
23andMe allrs2233580
SNP Nexus

SNPshotrs2233580
SNPdbers2233580
MSV3drs2233580
GWAS Ctlgrs2233580
Max Magnitude0
? (A;A) (A;G) (G;G) 28
[PMID 27398621] Single-variant testing of ~12,000 patients with exome and WGS data from type-2 diabetes patients yielded only a single significant result, (PAX4 p.Arg192His, a.k.a. rs2233580) that was only observed in East Asian individuals. Blog post about this here.
ClinVar
Risk rs2233580(A;A)
Alt rs2233580(A;A)
Reference rs2233580(G;G)
Significance Probable-non-pathogenic
Disease not specified
Variation info
Gene PAX4
CLNDBN not specified
Reversed 1
HGVS NC_000007.13:g.127253550C>T
CLNSRC
CLNACC RCV000117893.2,