HOXA1, homeobox A1, 3198

N. diseases: 95; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894017
rs104894017
Entrez Id: 3198;100506311
Gene Symbol: HOXA1;HOTAIRM1
HOXA1;HOTAIRM1
CUI: C1832216
Disease:
Bosley-Salih-Alorainy Syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs104894018
rs104894018
Entrez Id: 3198;100506311
Gene Symbol: HOXA1;HOTAIRM1
HOXA1;HOTAIRM1
CUI: C1832215
Disease:
Athabaskan brainstem dysgenesis 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1562700083
rs1562700083
Entrez Id: 3198;100506311
Gene Symbol: HOXA1;HOTAIRM1
HOXA1;HOTAIRM1
CUI: C1832216
Disease:
Bosley-Salih-Alorainy Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs769152039
rs769152039
Entrez Id: 3198;100506311
Gene Symbol: HOXA1;HOTAIRM1
HOXA1;HOTAIRM1
CUI: C1832216
Disease:
Bosley-Salih-Alorainy Syndrome 		AC 0.700 CausalMutation CLINVAR
dbSNP: rs769152039
rs769152039
Entrez Id: 3198;100506311
Gene Symbol: HOXA1;HOTAIRM1
HOXA1;HOTAIRM1
CUI: C1832215
Disease:
Athabaskan brainstem dysgenesis 		AC 0.700 CausalMutation CLINVAR
dbSNP: rs10951154
rs10951154
Entrez Id: 3198;100506311
Gene Symbol: HOXA1;HOTAIRM1
HOXA1;HOTAIRM1
CUI: C0004352
Disease:
Autistic Disorder 		0.040 GeneticVariation BEFREE The HOXA1 A218G polymorphism has been found to be associated with autism and larger head circumference in autistic patients. 19018953 2009
dbSNP: rs10951154
rs10951154
Entrez Id: 3198;100506311
Gene Symbol: HOXA1;HOTAIRM1
HOXA1;HOTAIRM1
CUI: C0004352
Disease:
Autistic Disorder 		0.040 GeneticVariation BEFREE Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism. 14960295 2004
dbSNP: rs10951154
rs10951154
Entrez Id: 3198;100506311
Gene Symbol: HOXA1;HOTAIRM1
HOXA1;HOTAIRM1
CUI: C0004352
Disease:
Autistic Disorder 		0.040 GeneticVariation BEFREE More direct tests, comparing genotype frequencies between probands and controls and tracking transmission of the A versus G alleles to affected offspring, did not support the contention that allele status for the HOXA1 A218G polymorphism influences one's susceptibility to autism. 12908836 2003
dbSNP: rs10951154
rs10951154
Entrez Id: 3198;100506311
Gene Symbol: HOXA1;HOTAIRM1
HOXA1;HOTAIRM1
CUI: C0004352
Disease:
Autistic Disorder 		0.040 GeneticVariation BEFREE Therefore, although we cannot exclude the possibility that the samples in the two studies are intrinsically different, our data from our sample argue against a major role for HOXA1 (His)73(Arg) in liability to autism. 12210285 2002
dbSNP: rs10951154
rs10951154
Entrez Id: 3198;100506311
Gene Symbol: HOXA1;HOTAIRM1
HOXA1;HOTAIRM1
CUI: C1510586
Disease:
Autism Spectrum Disorders 		0.020 GeneticVariation BEFREE In line with this notion, a nonsynonymous single nucleotide polymorphism within a highly conserved domain of HOXA1--A218G (rs10951154)--has been linked to both ASD risk, and cross-sectional differences in superior posterior lobar cerebellar anatomy in late adulthood. 22359339 2012
dbSNP: rs10951154
rs10951154
Entrez Id: 3198;100506311
Gene Symbol: HOXA1;HOTAIRM1
HOXA1;HOTAIRM1
CUI: C1510586
Disease:
Autism Spectrum Disorders 		0.020 GeneticVariation BEFREE This meta-analysis suggests the HOXA1 A218G and HOXB1 nINS/INS variants may not contribute significantly to ASD risk. 21980499 2011