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rs193922699

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922699(A;G)
Make rs193922699(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position43114478
GeneRET
is asnp
is mentioned by
dbSNPrs193922699
ebirs193922699
HLIrs193922699
Exacrs193922699
Varsomers193922699
Maprs193922699
PheGenIrs193922699
hapmaprs193922699
1000 genomesrs193922699
hgdprs193922699
ensemblrs193922699
gopubmedrs193922699
geneviewrs193922699
scholarrs193922699
googlers193922699
pharmgkbrs193922699
gwascentralrs193922699
openSNPrs193922699
23andMers193922699
23andMe allrs193922699
SNP Nexus

SNPshotrs193922699
SNPdbers193922699
MSV3drs193922699
GWAS Ctlgrs193922699
Max Magnitude0
ClinVar
Risk rs193922699(G;G)
Alt rs193922699(G;G)
Reference rs193922699(A;A)
Significance Probable-Pathogenic
Disease Hirschsprung disease 1
Variation info
Gene RET
CLNDBN Hirschsprung disease 1
Reversed 0
HGVS NC_000010.10:g.43609926A>G
CLNSRC ClinVar
CLNACC RCV000030404.1,


[PMID 11436122] Novel RET mutations in Hirschsprung's disease patients from the diverse South African population.


[PMID 12628594] Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome.


[PMID 18280283] A review of genetic mutation in familial Hirschsprung's disease in South Africa: towards genetic counseling.


[PMID 19572138] Total colonic aganglionosis and Hirschsprung's disease: shades of the same or different?


[PMID 19853744] Clinical and genetic differences in total colonic aganglionosis in Hirschsprung's disease.