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rs104894018

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894018(C;T)
Make rs104894018(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position27095837
GeneHOTAIRM1, HOXA1
is asnp
is mentioned by
dbSNPrs104894018
ebirs104894018
HLIrs104894018
Exacrs104894018
Varsomers104894018
Maprs104894018
PheGenIrs104894018
hapmaprs104894018
1000 genomesrs104894018
hgdprs104894018
ensemblrs104894018
gopubmedrs104894018
geneviewrs104894018
scholarrs104894018
googlers104894018
pharmgkbrs104894018
gwascentralrs104894018
openSNPrs104894018
23andMers104894018
23andMe allrs104894018
SNP Nexus

SNPshotrs104894018
SNPdbers104894018
MSV3drs104894018
GWAS Ctlgrs104894018
Max Magnitude0
OMIM142955
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894018(G,T;G,T)
Alt rs104894018(G,T;G,T)
Reference rs104894018(C;C)
Significance Pathogenic
Disease Athabaskan brainstem dysgenesis
Variation info
Gene HOXA1 HOTAIRM1
CLNDBN Athabaskan brainstem dysgenesis
Reversed 1
HGVS NC_000007.13:g.27135456G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000016029.25,