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rs548065551

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs548065551(A;A)
Make rs548065551(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position6690936
GeneSLC13A5
is asnp
is mentioned by
dbSNPrs548065551
ebirs548065551
HLIrs548065551
Exacrs548065551
Varsomers548065551
Maprs548065551
PheGenIrs548065551
hapmaprs548065551
1000 genomesrs548065551
hgdprs548065551
ensemblrs548065551
gopubmedrs548065551
geneviewrs548065551
scholarrs548065551
googlers548065551
pharmgkbrs548065551
gwascentralrs548065551
openSNPrs548065551
23andMers548065551
23andMe allrs548065551
SNP Nexus

SNPshotrs548065551
SNPdbers548065551
MSV3drs548065551
GWAS Ctlgrs548065551
Max Magnitude0
ClinVar
Risk rs548065551(A;A)
Alt rs548065551(A;A)
Reference rs548065551(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene SLC13A5
CLNDBN Epileptic encephalopathy, early infantile, 25
Reversed 0
HGVS NC_000017.10:g.6594255G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000202396.1,