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rs267606684

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a Brown-Vialetto-Van Laere syndrome mutation
(T;T) 8 Brown-Vialetto-Van Laere Syndrome
ReferenceGRCh38 38.1/141
Chromosome20
Position765381
GeneSLC52A3
is asnp
is mentioned by
dbSNPrs267606684
ebirs267606684
HLIrs267606684
Exacrs267606684
Varsomers267606684
Maprs267606684
PheGenIrs267606684
hapmaprs267606684
1000 genomesrs267606684
hgdprs267606684
ensemblrs267606684
gopubmedrs267606684
geneviewrs267606684
scholarrs267606684
googlers267606684
pharmgkbrs267606684
gwascentralrs267606684
openSNPrs267606684
23andMers267606684
23andMe allrs267606684
SNP Nexus

SNPshotrs267606684
SNPdbers267606684
MSV3drs267606684
GWAS Ctlgrs267606684
Max Magnitude8
ClinVar
Risk rs267606684(T;T)
Alt rs267606684(T;T)
Reference rs267606684(C;C)
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.746025G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000164.4,