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rs2233578

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs2233578(C;T)
Make rs2233578(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position127614497
GenePAX4
is asnp
is mentioned by
dbSNPrs2233578
ebirs2233578
HLIrs2233578
Exacrs2233578
Varsomers2233578
Maprs2233578
PheGenIrs2233578
hapmaprs2233578
1000 genomesrs2233578
hgdprs2233578
ensemblrs2233578
gopubmedrs2233578
geneviewrs2233578
scholarrs2233578
googlers2233578
pharmgkbrs2233578
gwascentralrs2233578
openSNPrs2233578
23andMers2233578
23andMe allrs2233578
SNP Nexus

SNPshotrs2233578
SNPdbers2233578
MSV3drs2233578
GWAS Ctlgrs2233578
GMAF0.02433
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM167413
Desc
Variant0002
Relatedalso


ClinVar
Risk rs2233578(T;T)
Alt rs2233578(T;T)
Reference rs2233578(C;C)
Significance Other
Disease Diabetes mellitus not specified
Variation info
Gene PAX4
CLNDBN Diabetes mellitus, ketosis-prone, susceptibility to not specified
Reversed 1
HGVS NC_000007.13:g.127254551G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014801.2, RCV000117891.1,



GET Evidence
PAX4-R133W
aa_change Arg133Trp
aa_change_short R133W
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0316044
summary