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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
dbSNP (classic)rs2233578
ClinGenrs2233578
ebirs2233578
HLIrs2233578
Exacrs2233578
Gnomadrs2233578
Varsomers2233578
LitVarrs2233578
Maprs2233578
PheGenIrs2233578
Biobankrs2233578
1000 genomesrs2233578
hgdprs2233578
ensemblrs2233578
geneviewrs2233578
scholarrs2233578
googlers2233578
pharmgkbrs2233578
gwascentralrs2233578
openSNPrs2233578
23andMers2233578
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 Maturity-onset diabetes of the young Monogenic diabetes
Variation info
Gene PAX4
CLNDBN Diabetes mellitus, ketosis-prone, susceptibility to not specified Maturity-onset diabetes of the young Monogenic diabetes
Reversed 1
HGVS NC_000007.13:g.127254551G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014801.2, RCV000117891.2, RCV000397400.1, RCV000445408.1,