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rs398123067

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123067(A;A)
Make rs398123067(A;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position144360343
GeneFBXL6, SLC52A2
is asnp
is mentioned by
dbSNPrs398123067
ebirs398123067
HLIrs398123067
Exacrs398123067
Varsomers398123067
Maprs398123067
PheGenIrs398123067
hapmaprs398123067
1000 genomesrs398123067
hgdprs398123067
ensemblrs398123067
gopubmedrs398123067
geneviewrs398123067
scholarrs398123067
googlers398123067
pharmgkbrs398123067
gwascentralrs398123067
openSNPrs398123067
23andMers398123067
23andMe allrs398123067
SNP Nexus

SNPshotrs398123067
SNPdbers398123067
MSV3drs398123067
GWAS Ctlgrs398123067
Max Magnitude0
ClinVar
Risk rs398123067(A;A)
Alt rs398123067(A;A)
Reference rs398123067(C;C)
Significance Pathogenic
Disease Brown-Vialetto-Van Laere syndrome 2
Variation info
Gene FBXL6 SLC52A2
CLNDBN Brown-Vialetto-Van Laere syndrome 2
Reversed 0
HGVS NC_000008.10:g.145584003C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000082864.4,