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rs267606686

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 7 Brown-Vialetto-Van Laere Syndrome
(A;G) 3 Carrier of a Brown-Vialetto-Van Laere syndrome mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome20
Position765669
GeneSLC52A3
is asnp
is mentioned by
dbSNPrs267606686
ebirs267606686
HLIrs267606686
Exacrs267606686
Varsomers267606686
Maprs267606686
PheGenIrs267606686
hapmaprs267606686
1000 genomesrs267606686
hgdprs267606686
ensemblrs267606686
gopubmedrs267606686
geneviewrs267606686
scholarrs267606686
googlers267606686
pharmgkbrs267606686
gwascentralrs267606686
openSNPrs267606686
23andMers267606686
23andMe allrs267606686
SNP Nexus

SNPshotrs267606686
SNPdbers267606686
MSV3drs267606686
GWAS Ctlgrs267606686
Max Magnitude7
ClinVar
Risk rs267606686(A;A)
Alt rs267606686(A;A)
Reference rs267606686(G;G)
Significance Pathogenic
Disease Brown-Vialetto-Van Laere syndrome 1
Variation info
Gene SLC52A3
CLNDBN Brown-Vialetto-Van Laere syndrome 1
Reversed 1
HGVS NC_000020.10:g.746313C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000166.4,