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rs375088539

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs375088539(C;T)
Make rs375088539(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position144360300
GeneFBXL6, SLC52A2
is asnp
is mentioned by
dbSNPrs375088539
ebirs375088539
HLIrs375088539
Exacrs375088539
Varsomers375088539
Maprs375088539
PheGenIrs375088539
hapmaprs375088539
1000 genomesrs375088539
hgdprs375088539
ensemblrs375088539
gopubmedrs375088539
geneviewrs375088539
scholarrs375088539
googlers375088539
pharmgkbrs375088539
gwascentralrs375088539
openSNPrs375088539
23andMers375088539
23andMe allrs375088539
SNP Nexus

SNPshotrs375088539
SNPdbers375088539
MSV3drs375088539
GWAS Ctlgrs375088539
Max Magnitude0
ClinVar
Risk rs375088539(T;T)
Alt rs375088539(T;T)
Reference rs375088539(C;C)
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.145583960C>T
CLNSRC
CLNACC RCV000167765.2, RCV000235507.1,