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rs138085358

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs138085358(A;A)
Make rs138085358(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position36686136
GeneSLC1A3
is asnp
is mentioned by
dbSNPrs138085358
dbSNP (classic)rs138085358
ClinGenrs138085358
ebirs138085358
HLIrs138085358
Exacrs138085358
Gnomadrs138085358
Varsomers138085358
LitVarrs138085358
Maprs138085358
PheGenIrs138085358
Biobankrs138085358
1000 genomesrs138085358
hgdprs138085358
ensemblrs138085358
geneviewrs138085358
scholarrs138085358
googlers138085358
pharmgkbrs138085358
gwascentralrs138085358
openSNPrs138085358
23andMers138085358
SNPshotrs138085358
SNPdbers138085358
MSV3drs138085358
GWAS Ctlgrs138085358
Max Magnitude0
ClinVar
Risk rs138085358(A;A)
Alt rs138085358(A;A)
Reference Rs138085358(G;G)
Significance Pathogenic
Disease Episodic ataxia
Variation info
Gene SLC1A3
CLNDBN Episodic ataxia, type 6
Reversed 0
HGVS NC_000005.9:g.36686238G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000234998.1,