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rs797045200

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045200(C;T)
Make rs797045200(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position144360192
GeneFBXL6, SLC52A2
is asnp
is mentioned by
dbSNPrs797045200
ebirs797045200
HLIrs797045200
Exacrs797045200
Varsomers797045200
Maprs797045200
PheGenIrs797045200
hapmaprs797045200
1000 genomesrs797045200
hgdprs797045200
ensemblrs797045200
gopubmedrs797045200
geneviewrs797045200
scholarrs797045200
googlers797045200
pharmgkbrs797045200
gwascentralrs797045200
openSNPrs797045200
23andMers797045200
23andMe allrs797045200
SNP Nexus

SNPshotrs797045200
SNPdbers797045200
MSV3drs797045200
GWAS Ctlgrs797045200
Max Magnitude0
ClinVar
Risk rs797045200(T;T)
Alt rs797045200(T;T)
Reference rs797045200(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.145583852C>T
CLNSRC
CLNACC RCV000191984.1,