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rs145431028

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs145431028(C;C)
Make rs145431028(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position761065
GeneSLC52A3
is asnp
is mentioned by
dbSNPrs145431028
ebirs145431028
HLIrs145431028
Exacrs145431028
Varsomers145431028
Maprs145431028
PheGenIrs145431028
hapmaprs145431028
1000 genomesrs145431028
hgdprs145431028
ensemblrs145431028
gopubmedrs145431028
geneviewrs145431028
scholarrs145431028
googlers145431028
pharmgkbrs145431028
gwascentralrs145431028
openSNPrs145431028
23andMers145431028
23andMe allrs145431028
SNP Nexus

SNPshotrs145431028
SNPdbers145431028
MSV3drs145431028
GWAS Ctlgrs145431028
Max Magnitude0
ClinVar
Risk rs145431028(C;C)
Alt rs145431028(C;C)
Reference rs145431028(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.741709G>C
CLNSRC
CLNACC RCV000191974.1,