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rs397514538

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514538(C;C)
Make rs397514538(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position144359860
GeneFBXL6, SLC52A2
is asnp
is mentioned by
dbSNPrs397514538
ebirs397514538
HLIrs397514538
Exacrs397514538
Varsomers397514538
Maprs397514538
PheGenIrs397514538
hapmaprs397514538
1000 genomesrs397514538
hgdprs397514538
ensemblrs397514538
gopubmedrs397514538
geneviewrs397514538
scholarrs397514538
googlers397514538
pharmgkbrs397514538
gwascentralrs397514538
openSNPrs397514538
23andMers397514538
23andMe allrs397514538
SNP Nexus

SNPshotrs397514538
SNPdbers397514538
MSV3drs397514538
GWAS Ctlgrs397514538
Max Magnitude0
ClinVar
Risk rs397514538(C;C)
Alt rs397514538(C;C)
Reference rs397514538(T;T)
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.145583520T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000032776.4,