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rs797045202

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045202(C;T)
Make rs797045202(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position144360676
GeneSLC52A2
is asnp
is mentioned by
dbSNPrs797045202
ebirs797045202
HLIrs797045202
Exacrs797045202
Varsomers797045202
Maprs797045202
PheGenIrs797045202
hapmaprs797045202
1000 genomesrs797045202
hgdprs797045202
ensemblrs797045202
gopubmedrs797045202
geneviewrs797045202
scholarrs797045202
googlers797045202
pharmgkbrs797045202
gwascentralrs797045202
openSNPrs797045202
23andMers797045202
23andMe allrs797045202
SNP Nexus

SNPshotrs797045202
SNPdbers797045202
MSV3drs797045202
GWAS Ctlgrs797045202
Max Magnitude0
ClinVar
Risk rs797045202(T;T)
Alt rs797045202(T;T)
Reference rs797045202(C;C)
Significance Pathogenic
Disease Brown-Vialetto-Van Laere syndrome 2
Variation info
Gene SLC52A2
CLNDBN Brown-Vialetto-Van Laere syndrome 2
Reversed 0
HGVS NC_000008.10:g.145584336C>T
CLNSRC
CLNACC RCV000191987.1,