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rs267606685

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 8 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
Position763901
GeneSLC52A3
is asnp
is mentioned by
dbSNPrs267606685
ebirs267606685
HLIrs267606685
Exacrs267606685
Varsomers267606685
Maprs267606685
PheGenIrs267606685
hapmaprs267606685
1000 genomesrs267606685
hgdprs267606685
ensemblrs267606685
gopubmedrs267606685
geneviewrs267606685
scholarrs267606685
googlers267606685
pharmgkbrs267606685
gwascentralrs267606685
openSNPrs267606685
23andMers267606685
23andMe allrs267606685
SNP Nexus

SNPshotrs267606685
SNPdbers267606685
MSV3drs267606685
GWAS Ctlgrs267606685
Max Magnitude8
ClinVar
Risk Rs267606685(C;C)
Alt Rs267606685(C;C)
Reference Rs267606685(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.744545A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000165.5,