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rs1799939

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs1799939(A;A)
Make rs1799939(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position43114671
GeneRET
is asnp
is mentioned by
dbSNPrs1799939
ebirs1799939
HLIrs1799939
Exacrs1799939
Varsomers1799939
Maprs1799939
PheGenIrs1799939
hapmaprs1799939
1000 genomesrs1799939
hgdprs1799939
ensemblrs1799939
gopubmedrs1799939
geneviewrs1799939
scholarrs1799939
googlers1799939
pharmgkbrs1799939
gwascentralrs1799939
openSNPrs1799939
23andMers1799939
23andMe allrs1799939
SNP Nexus

SNPshotrs1799939
SNPdbers1799939
MSV3drs1799939
GWAS Ctlgrs1799939
GMAF0.1547
Max Magnitude0
? (A;A) (A;G) (G;G) 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
Source plos
Gene RET
allele A
frequency
sift TOLERATED
HuRef 1103649921461
Disease Association 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.



OMIM191830
DescRENAL ADYSPLASIA
Variant
Relatedalso
OMIM193000
DescVESICOURETERAL REFLUX 1; VUR1
Variant
Relatedalso
OMIM164761
DescREARRANGED DURING TRANSFECTION PROTOONCOGENE; RET
Variant
Relatedalso
[PMID 16385451OA-icon.png] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.


[PMID 18273880] RET Gly691Ser mutation is associated with primary vesicoureteral reflux in the French-Canadian population from Quebec.


[PMID 18547414OA-icon.png] Genotyping panel for assessing response to cancer chemotherapy.


[PMID 19138047OA-icon.png] Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan.


[PMID 20532249OA-icon.png] Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.


[PMID 23059849] 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
RET-G691S
aa_change Gly691Ser
aa_change_short G691S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.156256
summary



[PMID 24897126OA-icon.png] RET Variants and Haplotype Analysis in a Cohort of Czech Patients with Hirschsprung Disease


ClinVar
Risk rs1799939(A;A)
Alt rs1799939(A;A)
Reference rs1799939(G;G)
Significance Non-pathogenic
Disease No MEN2 disease not provided not specified Hereditary cancer-predisposing syndrome
Variation info
Gene RET
CLNDBN No MEN2 disease not provided not specified Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000010.10:g.43610119G>A
CLNSRC HGMD
CLNACC RCV000021841.1, RCV000034769.2, RCV000039052.7, RCV000162947.1,



[PMID 27798940] Rare RET Variant p.D707E in a Chinese Pedigree with Hereditary Medullary Thyroid Carcinoma.