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rs281864468

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281864468(A;T)
Make rs281864468(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position130131770
GeneAIFM1
is asnp
is mentioned by
dbSNPrs281864468
ebirs281864468
HLIrs281864468
Exacrs281864468
Varsomers281864468
Maprs281864468
PheGenIrs281864468
hapmaprs281864468
1000 genomesrs281864468
hgdprs281864468
ensemblrs281864468
gopubmedrs281864468
geneviewrs281864468
scholarrs281864468
googlers281864468
pharmgkbrs281864468
gwascentralrs281864468
openSNPrs281864468
23andMers281864468
23andMe allrs281864468
SNP Nexus

SNPshotrs281864468
SNPdbers281864468
MSV3drs281864468
GWAS Ctlgrs281864468
Max Magnitude0
ClinVar
Risk rs281864468(T;T)
Alt rs281864468(T;T)
Reference rs281864468(A;A)
Significance Pathogenic
Disease Cowchock syndrome
Variation info
Gene AIFM1
CLNDBN Cowchock syndrome
Reversed 1
HGVS NC_000023.10:g.129265745T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032801.25,