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rs778363575

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs778363575(C;C)
Make rs778363575(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position763932
GeneSLC52A3
is asnp
is mentioned by
dbSNPrs778363575
ebirs778363575
HLIrs778363575
Exacrs778363575
Varsomers778363575
Maprs778363575
PheGenIrs778363575
hapmaprs778363575
1000 genomesrs778363575
hgdprs778363575
ensemblrs778363575
gopubmedrs778363575
geneviewrs778363575
scholarrs778363575
googlers778363575
pharmgkbrs778363575
gwascentralrs778363575
openSNPrs778363575
23andMers778363575
23andMe allrs778363575
SNP Nexus

SNPshotrs778363575
SNPdbers778363575
MSV3drs778363575
GWAS Ctlgrs778363575
Max Magnitude0
ClinVar
Risk rs778363575(A,C;A,C)
Alt rs778363575(A,C;A,C)
Reference rs778363575(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.744576G>C
CLNSRC
CLNACC RCV000191963.1,