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rs398122838

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398122838(C;C)
Make rs398122838(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position148404708
GeneFBXO38
is asnp
is mentioned by
dbSNPrs398122838
ebirs398122838
HLIrs398122838
Exacrs398122838
Varsomers398122838
Maprs398122838
PheGenIrs398122838
hapmaprs398122838
1000 genomesrs398122838
hgdprs398122838
ensemblrs398122838
gopubmedrs398122838
geneviewrs398122838
scholarrs398122838
googlers398122838
pharmgkbrs398122838
gwascentralrs398122838
openSNPrs398122838
23andMers398122838
23andMe allrs398122838
SNP Nexus

SNPshotrs398122838
SNPdbers398122838
MSV3drs398122838
GWAS Ctlgrs398122838
Max Magnitude0
ClinVar
Risk rs398122838(C;C)
Alt rs398122838(C;C)
Reference rs398122838(T;T)
Significance Pathogenic
Disease Distal hereditary motor neuronopathy 2D
Variation info
Gene FBXO38
CLNDBN Distal hereditary motor neuronopathy 2D
Reversed 0
HGVS NC_000005.9:g.147784271T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000077762.2,