{{Rsnum
|rsid=1799939
|Gene=RET
|Chromosome=10
|position=43114671
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.1547
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=RET
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 3.7 | 28.4 | 67.9
| HCB | 1.5 | 21.4 | 77.1
| JPT | 2.3 | 15.9 | 81.8
| YRI | 1.6 | 16.1 | 82.3
| ASW | 1.8 | 16.4 | 81.8
| CHB | 1.5 | 21.4 | 77.1
| CHD | 3.8 | 14.4 | 81.7
| GIH | 8.2 | 36.7 | 55.1
| LWK | 1.9 | 19.4 | 78.7
| MEX | 14.3 | 44.6 | 41.1
| MKK | 0.0 | 0.0 | 0.0
| TSI | 3.0 | 32.0 | 65.0
| HapMapRevision=28
}}[[rs1799939]], also known as Gly691Ser, is a variant in the [[RET]] gene.

{{PMID|19306327}} This SNP has been reported to be associated with primary vesicoureteric reflux (pVUR) patients in Quebec, but it was not found in a study of 221 unrelated index cases of pVUR from the Irish population or in 190 full siblings of 160 of the index cases.

{{Venter SNP
|rsid=1799939
|allele=A
|frequency=
|uid=1103649921461
|type=heterozygous_SNP
|hugo=RET
|ensembl gene=ENSG00000165731
|ensembl transcript=ENST00000340058
|sift=TOLERATED
|disease=Defects in RET are a cause of congenital central hypoventilation syndrome (CCHS) (MIM:209880); also known as congenital failure of autonomic control or Ondine curse. CCHS is a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia.
}}

{{omim
|desc=RENAL ADYSPLASIA
|id=191830
|rsnum=1799939
}}

{{omim
|desc=VESICOURETERAL REFLUX 1; VUR1
|id=193000
|rsnum=1799939
}}

{{omim
|desc=REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET
|id=164761
|rsnum=1799939
}}

{{PMID Auto
|PMID=16385451
|Title=A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
|OA=1
}}

{{PMID Auto
|PMID=18273880
|Title=RET Gly691Ser mutation is associated with primary vesicoureteral reflux in the French-Canadian population from Quebec.
}}

{{PMID Auto
|PMID=18547414
|Title=Genotyping panel for assessing response to cancer chemotherapy.
|OA=1
}}

{{PMID Auto
|PMID=19138047
|Title=Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan.
|OA=1
}}

{{PMID Auto
|PMID=20532249
|Title=Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.
|OA=1
}}

{{PMID Auto
|PMID=23059849
|Title=Medullary thyroid carcinoma (MTC) and RET proto-oncogene: mutation spectrum in the familial cases and a meta-analysis of studies on the sporadic form
}}

{{GET Evidence
|gene=RET
|aa_change=Gly691Ser
|aa_change_short=G691S
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1799939
|overall_frequency_n=1681
|overall_frequency_d=10758
|overall_frequency=0.156256
|n_genomes=14
|n_genomes_annotated=0
|n_haplomes=15
|n_articles=2
|n_articles_annotated=2
|gene_in_genetests=Y
|pph2_score=0.16
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=2
|autoscore=3
|n_web_uneval=10
}}

{{PMID Auto
|PMID=24897126
|Title=RET Variants and Haplotype Analysis in a Cohort of Czech Patients with Hirschsprung Disease
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}