{{Rsnum
|rsid=2233578
|Gene=PAX4
|Chromosome=7
|position=127614497
|Orientation=plus
|GMAF=0.02433
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=PAX4
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 100.0 | 0.0 | 0.0
| HCB | 100.0 | 0.0 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 87.1 | 11.6 | 1.4
| ASW | 82.5 | 15.8 | 1.8
| CHB | 100.0 | 0.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 81.8 | 17.3 | 0.9
| MEX | 0.0 | 0.0 | 0.0
| MKK | 86.5 | 13.5 | 0.0
| TSI | 99.0 | 1.0 | 0.0
| HapMapRevision=28
}}{{omim
|id=167413
|rsnum=2233578
|variant=0002
}}

{{ClinVar
|rsid=2233578
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=127254551
|CHROM=7
|GMAF=0.0243
|dbSNPBuildID=98
|SSR=0
|SAO=1
|VP=0x05016000000015051f110100
|GENEINFO=PAX4:5078
|GENE_NAME=PAX4
|GENE_ID=5078
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.127254551G>A
|CLNORIGIN=1
|CLNSIG=255
|Tags=RV;PM;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9757; 0.02433
|CLNACC=RCV000014801.1
|CLNDBN=Diabetes mellitus, ketosis-prone, susceptibility to
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=167413.0002
|COMMON=1
|Disease=Diabetes mellitus
}}

{{GET Evidence
|gene=PAX4
|aa_change=Arg133Trp
|aa_change_short=R133W
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2233578
|overall_frequency_n=340
|overall_frequency_d=10758
|overall_frequency=0.0316044
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=0
|n_articles_annotated=0
|in_omim=Y
|nblosum100=7
|autoscore=3
|webscore=N
|n_web_uneval=9
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}