{{Rsnum
|rsid=6180
|Gene=GHR
|Chromosome=5
|position=42719137
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=C
|GMAF=0.4426
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=GHR
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 27.4 | 54.9 | 17.7
| HCB | 10.2 | 56.2 | 33.6
| JPT | 20.4 | 46.9 | 32.7
| YRI | 33.3 | 49.0 | 17.7
| ASW | 49.1 | 43.9 | 7.0
| CHB | 10.2 | 56.2 | 33.6
| CHD | 7.4 | 52.8 | 39.8
| GIH | 32.7 | 47.5 | 19.8
| LWK | 43.6 | 47.3 | 9.1
| MEX | 31.0 | 51.7 | 17.2
| MKK | 34.0 | 46.8 | 19.2
| TSI | 24.8 | 47.5 | 27.7
| HapMapRevision=28
}}

{{Venter SNP
|rsid=6180
|allele=C
|frequency=0.483
|uid=1103654086735
|type=heterozygous_SNP
|hugo=GHR
|ensembl gene=ENSG00000112964
|ensembl transcript=ENST00000356276
|sift=TOLERATED
|disease=Defects in GHR are a cause of idiopathic short stature (ISS) (MIM:600946). ISS is defined by a subnormal rate of growth.
}}

{{omim
|id=600946
|rsnum=6180
|variant=0028
}}

{{ClinVar
|rsid=6180
|Reversed=0
|FwdREF=A
|FwdALT=C
|REF=A
|ALT=C
|RSPOS=42719239
|CHROM=5
|GMAF=0.4423
|dbSNPBuildID=52
|SSR=0
|SAO=1
|VP=0x05016800000017051f110101
|GENEINFO=GHR:2690
|GENE_NAME=GHR
|GENE_ID=2690
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000005.9:g.42719239A>C
|CLNORIGIN=1
|CLNSIG=255
|Tags=PM;PMC;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.5574; 0.4426
|CLNACC=RCV000009190.1
|CLNDBN=Familial hypercholesterolemia
|CLNDSDB=MedGen:OMIM:OMIM:SNOMED_CT:SNOMED_CT
|CLNDSDBID=C0020445:143890:144400:397915002:398036000
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=600946.0028
|COMMON=1
|Disease=Familial hypercholesterolemia
}}

{{PMID Auto
|PMID=20445798
|Title=Chromosome 5p Region SNPs Are Associated with Risk of NSCLC among Women.
|OA=1
}}

{{GET Evidence
|gene=GHR
|aa_change=Ile544Leu
|aa_change_short=I544L
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs6180
|overall_frequency_n=4677
|overall_frequency_d=10758
|overall_frequency=0.434746
|n_genomes=36
|n_genomes_annotated=0
|n_haplomes=43
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.98
|genetests_testable=Y
|nblosum100=-2
|autoscore=3
|n_web_uneval=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}}