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rs398124641

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398124641(A;A)
Make rs398124641(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position144360408
GeneFBXL6, SLC52A2
is asnp
is mentioned by
dbSNPrs398124641
ebirs398124641
HLIrs398124641
Exacrs398124641
Varsomers398124641
Maprs398124641
PheGenIrs398124641
hapmaprs398124641
1000 genomesrs398124641
hgdprs398124641
ensemblrs398124641
gopubmedrs398124641
geneviewrs398124641
scholarrs398124641
googlers398124641
pharmgkbrs398124641
gwascentralrs398124641
openSNPrs398124641
23andMers398124641
23andMe allrs398124641
SNP Nexus

SNPshotrs398124641
SNPdbers398124641
MSV3drs398124641
GWAS Ctlgrs398124641
Max Magnitude0
ClinVar
Risk rs398124641(A;A)
Alt rs398124641(A;A)
Reference rs398124641(G;G)
Significance Pathogenic
Disease Brown-Vialetto-Van Laere syndrome 2 not provided
Variation info
Gene FBXL6 SLC52A2
CLNDBN Brown-Vialetto-Van Laere syndrome 2 not provided
Reversed 0
HGVS NC_000008.10:g.145584068G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000029145.4, RCV000235263.1,