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rs267606687

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 7 Brown-Vialetto-Van Laere Syndrome
(C;T) 3 Carrier of a Brown-Vialetto-Van Laere syndrome mutation
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome20
Position761198
GeneSLC52A3
is asnp
is mentioned by
dbSNPrs267606687
ebirs267606687
HLIrs267606687
Exacrs267606687
Varsomers267606687
Maprs267606687
PheGenIrs267606687
hapmaprs267606687
1000 genomesrs267606687
hgdprs267606687
ensemblrs267606687
gopubmedrs267606687
geneviewrs267606687
scholarrs267606687
googlers267606687
pharmgkbrs267606687
gwascentralrs267606687
openSNPrs267606687
23andMers267606687
23andMe allrs267606687
SNP Nexus

SNPshotrs267606687
SNPdbers267606687
MSV3drs267606687
GWAS Ctlgrs267606687
Max Magnitude7
ClinVar
Risk rs267606687(C;C)
Alt rs267606687(C;C)
Reference rs267606687(T;T)
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.741842A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000167.7,