Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1861972
rs1861972
EN2
0.060 GeneticVariation BEFREE Although our findings were not as robust as the previous studies, they suggest that rs1861972 may influence the risk for autism spectrum disorders. 17948868

2008

dbSNP: rs1861972
rs1861972
EN2
0.060 GeneticVariation BEFREE Here, we have investigated the association of five markers [rs3735653 (C/T) in exon 1; rs34808376 (GC/-) and rs6150410 (CGCATCCCC/-) in promoter region; rs1861972 (A/G) and rs1861973 (C/T) in the intron] of the gene with autism and ASD in Indian population using family-based approach. 20050924

2010

dbSNP: rs1861972
rs1861972
EN2
0.060 GeneticVariation BEFREE Previously we demonstrated that an intronic haplotype (rs1861972-rs1861973 A-C) in the homeobox transcription factor ENGRAILED2 (EN2) is significantly associated with ASD. 22180456

2012

dbSNP: rs1861972
rs1861972
EN2
0.060 GeneticVariation BEFREE Our previous research involving 167 nuclear families from the Autism Genetic Resource Exchange (AGRE) demonstrated that two intronic SNPs, rs1861972 and rs1861973, in the homeodomain transcription factor gene ENGRAILED 2 (EN2) are significantly associated with autism spectrum disorder (ASD). 16252243

2005

dbSNP: rs1861972
rs1861972
EN2
0.060 GeneticVariation BEFREE This analysis was then extended to include 167 small nuclear ASD pedigrees and significant association was again only observed for rs1861972 and rs1861973 under both the narrow and broad diagnostic criteria (narrow: rs1861972 P=0.0290, rs1861973 P=0.0073, haplotype P=0.0009; broad: rs1861972 P=0.0175, rs1861973 P=0.0107, haplotype P=0.0024). 15024396

2004

dbSNP: rs1861972
rs1861972
EN2
0.060 GeneticVariation BEFREE Subsequent molecular analysis determined that the EN2 ASD-associated haplotype (rs1861972-rs1861973 A-C) functions as a transcriptional activator to increase gene expression. 24520327

2014

dbSNP: rs1861973
rs1861973
EN2
0.040 GeneticVariation BEFREE Our previous research involving 167 nuclear families from the Autism Genetic Resource Exchange (AGRE) demonstrated that two intronic SNPs, rs1861972 and rs1861973, in the homeodomain transcription factor gene ENGRAILED 2 (EN2) are significantly associated with autism spectrum disorder (ASD). 16252243

2005

dbSNP: rs1861973
rs1861973
EN2
0.040 GeneticVariation BEFREE Previously we demonstrated that an intronic haplotype (rs1861972-rs1861973 A-C) in the homeobox transcription factor ENGRAILED2 (EN2) is significantly associated with ASD. 22180456

2012

dbSNP: rs1861973
rs1861973
EN2
0.040 GeneticVariation BEFREE Subsequent molecular analysis determined that the EN2 ASD-associated haplotype (rs1861972-rs1861973 A-C) functions as a transcriptional activator to increase gene expression. 24520327

2014

dbSNP: rs1861973
rs1861973
EN2
0.040 GeneticVariation BEFREE Here, we have investigated the association of five markers [rs3735653 (C/T) in exon 1; rs34808376 (GC/-) and rs6150410 (CGCATCCCC/-) in promoter region; rs1861972 (A/G) and rs1861973 (C/T) in the intron] of the gene with autism and ASD in Indian population using family-based approach. 20050924

2010

dbSNP: rs3735653
rs3735653
EN2
0.020 GeneticVariation BEFREE Here, we have investigated the association of five markers [rs3735653 (C/T) in exon 1; rs34808376 (GC/-) and rs6150410 (CGCATCCCC/-) in promoter region; rs1861972 (A/G) and rs1861973 (C/T) in the intron] of the gene with autism and ASD in Indian population using family-based approach. 20050924

2010

dbSNP: rs3735653
rs3735653
EN2
0.020 GeneticVariation BEFREE To investigate EN2 for evidence of association with ASD, four single-nucleotide polymorphisms (SNPs) (rs3735653, rs1861972, rs1861973, rs2361689) that span the majority of the 8.0 kb gene were assessed by the transmission/disequilibrium test. 15024396

2004

dbSNP: rs1026306398
rs1026306398
EN2
0.010 GeneticVariation BEFREE A case-control study showed that the G allele of c.425C>G was significantly associated with ASD (Fisher's exact test, P=0.0359). 27755371

2016

dbSNP: rs2361689
rs2361689
EN2
0.010 GeneticVariation BEFREE To investigate EN2 for evidence of association with ASD, four single-nucleotide polymorphisms (SNPs) (rs3735653, rs1861972, rs1861973, rs2361689) that span the majority of the 8.0 kb gene were assessed by the transmission/disequilibrium test. 15024396

2004