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rs267606688

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 8 Brown-Vialetto-Van Laere Syndrome
(A;C) 3 Carrier of a Brown-Vialetto-Van Laere syndrome mutation
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome20
Position765693
GeneSLC52A3
is asnp
is mentioned by
dbSNPrs267606688
ebirs267606688
HLIrs267606688
Exacrs267606688
Varsomers267606688
Maprs267606688
PheGenIrs267606688
hapmaprs267606688
1000 genomesrs267606688
hgdprs267606688
ensemblrs267606688
gopubmedrs267606688
geneviewrs267606688
scholarrs267606688
googlers267606688
pharmgkbrs267606688
gwascentralrs267606688
openSNPrs267606688
23andMers267606688
23andMe allrs267606688
SNP Nexus

SNPshotrs267606688
SNPdbers267606688
MSV3drs267606688
GWAS Ctlgrs267606688
Max Magnitude8
ClinVar
Risk rs267606688(A;A)
Alt rs267606688(A;A)
Reference rs267606688(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.746337G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000168.4,