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rs10951154

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs10951154(C;T)
Make rs10951154(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position27095695
GeneHOTAIRM1, HOXA1
is asnp
is mentioned by
dbSNPrs10951154
dbSNP (old)rs10951154
ClinGenrs10951154
ebirs10951154
HLIrs10951154
Exacrs10951154
Gnomadrs10951154
Varsomers10951154
Maprs10951154
PheGenIrs10951154
Biobankrs10951154
1000 genomesrs10951154
hgdprs10951154
ensemblrs10951154
gopubmedrs10951154
geneviewrs10951154
scholarrs10951154
googlers10951154
pharmgkbrs10951154
gwascentralrs10951154
openSNPrs10951154
23andMers10951154
23andMe allrs10951154
SNP Nexus

SNPshotrs10951154
SNPdbers10951154
MSV3drs10951154
GWAS Ctlgrs10951154
GMAF0.1983
Max Magnitude0
? (C;C) (C;T) (T;T) 28
mentioned by gs240


[PMID 21980499OA-icon.png] An Integrated Meta-Analysis of Two Variants in HOXA1/HOXB1 and Their Effect on the Risk of Autism Spectrum Disorders


[PMID 22359339OA-icon.png] Allelic Variation Within the Putative Autism Spectrum Disorder Risk Gene Homeobox A1 and Cerebellar Maturation in Typically Developing Children and Adolescents


[PMID 20678259OA-icon.png] Candidate gene study of HOXB1 in autism spectrum disorder.


GET Evidence
HOXA1-R73H
aa_change Arg73His
aa_change_short R73H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.728202
summary



[PMID 25164089OA-icon.png] The OSR1 rs12329305 Polymorphism Contributes to the Development of Congenital Malformations in Cases of Stillborn/Neonatal Death


ClinVar
Risk rs10951154(T;T)
Alt rs10951154(T;T)
Reference Rs10951154(C;C)
Significance Non-pathogenic
Disease Microtia
Variation info
Gene HOXA1 HOTAIRM1
CLNDBN Microtia, hearing impairment, and cleft palate
Reversed 0
HGVS NC_000007.13:g.27135314C>T
CLNSRC
CLNACC RCV000391664.1,