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rs797045201

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045201(C;T)
Make rs797045201(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position144360357
GeneFBXL6, SLC52A2
is asnp
is mentioned by
dbSNPrs797045201
ebirs797045201
HLIrs797045201
Exacrs797045201
Varsomers797045201
Maprs797045201
PheGenIrs797045201
hapmaprs797045201
1000 genomesrs797045201
hgdprs797045201
ensemblrs797045201
gopubmedrs797045201
geneviewrs797045201
scholarrs797045201
googlers797045201
pharmgkbrs797045201
gwascentralrs797045201
openSNPrs797045201
23andMers797045201
23andMe allrs797045201
SNP Nexus

SNPshotrs797045201
SNPdbers797045201
MSV3drs797045201
GWAS Ctlgrs797045201
Max Magnitude0
ClinVar
Risk rs797045201(T;T)
Alt rs797045201(T;T)
Reference rs797045201(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.145584017C>T
CLNSRC
CLNACC RCV000191985.1,