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rs767263985

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs767263985(G;T)
Make rs767263985(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position765401
GeneSLC52A3
is asnp
is mentioned by
dbSNPrs767263985
ebirs767263985
HLIrs767263985
Exacrs767263985
Varsomers767263985
Maprs767263985
PheGenIrs767263985
hapmaprs767263985
1000 genomesrs767263985
hgdprs767263985
ensemblrs767263985
gopubmedrs767263985
geneviewrs767263985
scholarrs767263985
googlers767263985
pharmgkbrs767263985
gwascentralrs767263985
openSNPrs767263985
23andMers767263985
23andMe allrs767263985
SNP Nexus

SNPshotrs767263985
SNPdbers767263985
MSV3drs767263985
GWAS Ctlgrs767263985
Max Magnitude0
ClinVar
Risk rs767263985(T;T)
Alt rs767263985(T;T)
Reference rs767263985(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.746045G>T
CLNSRC
CLNACC RCV000191975.1,