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rs778479139

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs778479139(A;A)
Make rs778479139(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position763937
GeneSLC52A3
is asnp
is mentioned by
dbSNPrs778479139
ebirs778479139
HLIrs778479139
Exacrs778479139
Varsomers778479139
Maprs778479139
PheGenIrs778479139
hapmaprs778479139
1000 genomesrs778479139
hgdprs778479139
ensemblrs778479139
gopubmedrs778479139
geneviewrs778479139
scholarrs778479139
googlers778479139
pharmgkbrs778479139
gwascentralrs778479139
openSNPrs778479139
23andMers778479139
23andMe allrs778479139
SNP Nexus

SNPshotrs778479139
SNPdbers778479139
MSV3drs778479139
GWAS Ctlgrs778479139
Max Magnitude0
ClinVar
Risk rs778479139(A;A)
Alt rs778479139(A;A)
Reference rs778479139(G;G)
Significance Pathogenic
Disease Brown-Vialetto-Van Laere syndrome 1
Variation info
Gene SLC52A3
CLNDBN Brown-Vialetto-Van Laere syndrome 1
Reversed 0
HGVS NC_000020.10:g.744581G>A
CLNSRC
CLNACC RCV000191977.1,