{{Rsnum
|rsid=11558492
|Gene=GNPAT
|Chromosome=1
|position=231272345
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.1437
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=GNPAT
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 4.4 | 28.3 | 67.3
| HCB | 0.0 | 23.4 | 76.6
| JPT | 0.9 | 25.7 | 73.5
| YRI | 0.7 | 12.9 | 86.4
| ASW | 0.0 | 14.0 | 86.0
| CHB | 0.0 | 23.4 | 76.6
| CHD | 0.0 | 16.5 | 83.5
| GIH | 4.0 | 22.8 | 73.3
| LWK | 0.9 | 15.6 | 83.5
| MEX | 3.5 | 15.8 | 80.7
| MKK | 1.3 | 20.5 | 78.2
| TSI | 4.0 | 37.6 | 58.4
| HapMapRevision=28
}}

{{Venter SNP
|rsid=11558492
|allele=G
|frequency=0.142
|uid=1103675361487
|type=heterozygous_SNP
|hugo=GNPAT
|ensembl gene=ENSG00000116906
|ensembl transcript=ENST00000366647
|sift=TOLERATED
|disease=Defects in GNPAT are the cause of rhizomelic chondrodysplasia punctata, type 2 (RCDP2) (MIM:222765); an autosomal recessive disease characterized by rhizomelic shortening of the upper extremities, severe growth and mental retardation and cataract.
}}

{{GET Evidence
|gene=GNPAT
|aa_change=Asp519Gly
|aa_change_short=D519G
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs11558492
|overall_frequency_n=1809
|overall_frequency_d=10758
|overall_frequency=0.168154
|n_genomes=13
|n_genomes_annotated=0
|n_haplomes=14
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.025
|genetests_testable=Y
|nblosum100=4
|autoscore=2
|n_web_uneval=2
}}

{{ClinVar
|ALT=G
|CAF=0.8563; 0.1437
|CHROM=1
|CLNACC=RCV000029140.1
|CLNALLE=1
|CLNDBN=Rhizomelic chondrodysplasia punctata type 2
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1857242:222765:ORPHA177
|CLNHGVS=NC_000001.11:g.231272345A>G
|CLNSIG=5
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_014236.3:c.1556A>G; 602744.0006
|COMMON=1
|Disease=Rhizomelic chondrodysplasia punctata type 2
|FwdALT=C
|FwdREF=T
|GENEINFO=GNPAT:8443
|GENE_ID=8443
|GENE_NAME=GNPAT
|REF=A
|RSPOS=231272345
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;SLO;NSM;REF;OTH;ASP;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|VC=SNV
|VP=0x050160000a1515051f110101
|WGT=1
|dbSNPBuildID=120
|rsid=11558492
|CLNORIGIN=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}