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rs148234606

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs148234606(C;C)
Make rs148234606(C;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position144360604
GeneSLC52A2
is asnp
is mentioned by
dbSNPrs148234606
ebirs148234606
HLIrs148234606
Exacrs148234606
Varsomers148234606
Maprs148234606
PheGenIrs148234606
hapmaprs148234606
1000 genomesrs148234606
hgdprs148234606
ensemblrs148234606
gopubmedrs148234606
geneviewrs148234606
scholarrs148234606
googlers148234606
pharmgkbrs148234606
gwascentralrs148234606
openSNPrs148234606
23andMers148234606
23andMe allrs148234606
SNP Nexus

SNPshotrs148234606
SNPdbers148234606
MSV3drs148234606
GWAS Ctlgrs148234606
Max Magnitude0
ClinVar
Risk rs148234606(C;C)
Alt rs148234606(C;C)
Reference rs148234606(T;T)
Significance Pathogenic
Disease Brown-Vialetto-Van Laere syndrome 2 not provided
Variation info
Gene SLC52A2
CLNDBN Brown-Vialetto-Van Laere syndrome 2 not provided
Reversed 0
HGVS NC_000008.10:g.145584264T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000032777.7, RCV000236444.1,