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rs752218005

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs752218005(A;A)
Make rs752218005(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position763636
GeneSLC52A3
is asnp
is mentioned by
dbSNPrs752218005
ebirs752218005
HLIrs752218005
Exacrs752218005
Varsomers752218005
Maprs752218005
PheGenIrs752218005
hapmaprs752218005
1000 genomesrs752218005
hgdprs752218005
ensemblrs752218005
gopubmedrs752218005
geneviewrs752218005
scholarrs752218005
googlers752218005
pharmgkbrs752218005
gwascentralrs752218005
openSNPrs752218005
23andMers752218005
23andMe allrs752218005
SNP Nexus

SNPshotrs752218005
SNPdbers752218005
MSV3drs752218005
GWAS Ctlgrs752218005
Max Magnitude0
ClinVar
Risk rs752218005(A;A)
Alt rs752218005(A;A)
Reference rs752218005(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.744280G>A
CLNSRC
CLNACC RCV000191966.1,