Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1566304640
rs1566304640
EDNRB ; EDNRB-AS1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs781214034
rs781214034
EDNRB ; EDNRB-AS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs13223150
rs13223150
TSGA13
0.010 GeneticVariation BEFREE One haplotype (BL1_ht1, G-A-C-C) including rs13223150 also showed a significant association with TCA (P = 0.002, P<sup>corr</sup> = 0.01). 31181311

2019
dbSNP: rs16879552
rs16879552
NRG1
0.010 GeneticVariation BEFREE Furthermore, pooled data based on segment length indicated that individuals with rs7835688 experienced a significantly higher risk for short-segment HSCR in all genotypes; but rs16879552 was only found to be associated with long-segment HSCR/ total colonic aganglionosis at the allele level. 28855726

2017
dbSNP: rs7835688
rs7835688
NRG1
0.010 GeneticVariation BEFREE Furthermore, pooled data based on segment length indicated that individuals with rs7835688 experienced a significantly higher risk for short-segment HSCR in all genotypes; but rs16879552 was only found to be associated with long-segment HSCR/ total colonic aganglionosis at the allele level. 28855726

2017
dbSNP: rs10206961
rs10206961
VAMP5
0.010 GeneticVariation BEFREE In additional combined analysis after imputation based on our previous GWAS, five SNPs still retained significant associations with the TCA subtype (minimum pcorr = 0.006 at rs10206961). 26970437

2016
dbSNP: rs1254900
rs1254900
VAMP5
0.010 GeneticVariation BEFREE Our recent genome-wide association study has identified a variant (rs1254900) of vesicle-associated membrane protein 5 (VAMP5) as a potential risk locus for total colonic aganglionosis (TCA) in HSCR. 26970437

2016
dbSNP: rs6509940
rs6509940 		0.010 GeneticVariation BEFREE In further analysis among three HSCR subtypes (short segment, S-HSCR; long segment, L-HSCR; total colonic aganglionosis, TCA) based on the extent of aganglionic segment, the result showed a different association pattern depending on the subtypes (minimum pcorr  = 6.12 × 10(-5) for rs6509940 in S-HSCR; but no significant SNP in L-HSCR and TCA). 26172388

2015
dbSNP: rs9282834
rs9282834
RET
0.010 GeneticVariation BEFREE One HSCR patient who died from total colonic aganglionosis had a combination of homozygous mutation of D489N, L769L, and heterozygous mutation of V778D. 23114404

2013
dbSNP: rs77316810
rs77316810
RET
0.010 GeneticVariation BEFREE The finding of a C620R substitution in a patient affected with total colonic aganglionosis confirms the involvement of this mutation in the pathogenesis of different phenotypes (i.e., medullary thyroid carcinoma and Hirschsprung). 9090527

1997
dbSNP: rs77702891
rs77702891
RET
0.010 GeneticVariation BEFREE Finally the R313Q mutation identified for the first time in homozygosity in a child born of consanguineous parents is associated with the most severe Hirschsprung phenotype (total colonic aganglionosis with small bowel involvement). 9090527

1997