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rs754753126

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs754753126(C;C)
Make rs754753126(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position761240
GeneSLC52A3
is asnp
is mentioned by
dbSNPrs754753126
ebirs754753126
HLIrs754753126
Exacrs754753126
Varsomers754753126
Maprs754753126
PheGenIrs754753126
hapmaprs754753126
1000 genomesrs754753126
hgdprs754753126
ensemblrs754753126
gopubmedrs754753126
geneviewrs754753126
scholarrs754753126
googlers754753126
pharmgkbrs754753126
gwascentralrs754753126
openSNPrs754753126
23andMers754753126
23andMe allrs754753126
SNP Nexus

SNPshotrs754753126
SNPdbers754753126
MSV3drs754753126
GWAS Ctlgrs754753126
Max Magnitude0
ClinVar
Risk rs754753126(C;C)
Alt rs754753126(C;C)
Reference rs754753126(T;T)
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.741884T>G
CLNSRC
CLNACC RCV000191970.1,