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rs398123068

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123068(A;G)
Make rs398123068(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position144360406
GeneFBXL6, SLC52A2
is asnp
is mentioned by
dbSNPrs398123068
ebirs398123068
HLIrs398123068
Exacrs398123068
Varsomers398123068
Maprs398123068
PheGenIrs398123068
hapmaprs398123068
1000 genomesrs398123068
hgdprs398123068
ensemblrs398123068
gopubmedrs398123068
geneviewrs398123068
scholarrs398123068
googlers398123068
pharmgkbrs398123068
gwascentralrs398123068
openSNPrs398123068
23andMers398123068
23andMe allrs398123068
SNP Nexus

SNPshotrs398123068
SNPdbers398123068
MSV3drs398123068
GWAS Ctlgrs398123068
Max Magnitude0
ClinVar
Risk rs398123068(G;G)
Alt rs398123068(G;G)
Reference rs398123068(A;A)
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.145584066A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000082865.4,