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rs267606683

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a Brown-Vialetto-Van Laere syndrome mutation
(T;T) 8 Brown-Vialetto-Van Laere Syndrome
ReferenceGRCh38 38.1/141
Chromosome20
Position765564
GeneSLC52A3
is asnp
is mentioned by
dbSNPrs267606683
ebirs267606683
HLIrs267606683
Exacrs267606683
Varsomers267606683
Maprs267606683
PheGenIrs267606683
hapmaprs267606683
1000 genomesrs267606683
hgdprs267606683
ensemblrs267606683
gopubmedrs267606683
geneviewrs267606683
scholarrs267606683
googlers267606683
pharmgkbrs267606683
gwascentralrs267606683
openSNPrs267606683
23andMers267606683
23andMe allrs267606683
SNP Nexus

SNPshotrs267606683
SNPdbers267606683
MSV3drs267606683
GWAS Ctlgrs267606683
Max Magnitude8
ClinVar
Risk rs267606683(A,T;A,T)
Alt rs267606683(A,T;A,T)
Reference rs267606683(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.746208C>A; NC_000020.10:g.746208C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000163.4, RCV000191960.1,