rs193922699

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	5.1	Multiple Endocrine Neoplasia IIA

Make rs193922699(G;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

43114478

Gene

RET

is a	snp
is	mentioned by
dbSNP	rs193922699
dbSNP (classic)	rs193922699
ClinGen	rs193922699
ebi	rs193922699
HLI	rs193922699
Exac	rs193922699
Gnomad	rs193922699
Varsome	rs193922699
LitVar	rs193922699
Map	rs193922699
PheGenI	rs193922699
Biobank	rs193922699
1000 genomes	rs193922699
hgdp	rs193922699
ensembl	rs193922699
geneview	rs193922699
scholar	rs193922699
google	rs193922699
pharmgkb	rs193922699
gwascentral	rs193922699
openSNP	rs193922699
23andMe	rs193922699
SNPshot	rs193922699
SNPdbe	rs193922699
MSV3d	rs193922699
GWAS Ctlg	rs193922699

Max Magnitude

5.1

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.