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rs104894017

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894017(C;G)
Make rs104894017(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position27095829
GeneHOTAIRM1, HOXA1
is asnp
is mentioned by
dbSNPrs104894017
ebirs104894017
HLIrs104894017
Exacrs104894017
Varsomers104894017
Maprs104894017
PheGenIrs104894017
hapmaprs104894017
1000 genomesrs104894017
hgdprs104894017
ensemblrs104894017
gopubmedrs104894017
geneviewrs104894017
scholarrs104894017
googlers104894017
pharmgkbrs104894017
gwascentralrs104894017
openSNPrs104894017
23andMers104894017
23andMe allrs104894017
SNP Nexus

SNPshotrs104894017
SNPdbers104894017
MSV3drs104894017
GWAS Ctlgrs104894017
Max Magnitude0
OMIM142955
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894017(G;G)
Alt rs104894017(G;G)
Reference rs104894017(C;C)
Significance Pathogenic
Disease Bosley-Salih-Alorainy syndrome
Variation info
Gene HOXA1 HOTAIRM1
CLNDBN Bosley-Salih-Alorainy syndrome
Reversed 1
HGVS NC_000007.13:g.27135448G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000016028.25,