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rs863225447

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863225447(-;CAGGAGAAAGT)
Make rs863225447(CAGGAGAAAGT;CAGGAGAAAGT)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position6693101
GeneSLC13A5
is asnp
is mentioned by
dbSNPrs863225447
ClinGenrs863225447
ebirs863225447
HLIrs863225447
Exacrs863225447
Varsomers863225447
Maprs863225447
PheGenIrs863225447
hapmaprs863225447
1000 genomesrs863225447
hgdprs863225447
ensemblrs863225447
gopubmedrs863225447
geneviewrs863225447
scholarrs863225447
googlers863225447
pharmgkbrs863225447
gwascentralrs863225447
openSNPrs863225447
23andMers863225447
23andMe allrs863225447
SNP Nexus

SNPshotrs863225447
SNPdbers863225447
MSV3drs863225447
GWAS Ctlgrs863225447
Max Magnitude0
ClinVar
Risk rs863225447(CAGGAGAAAGT;CAGGAGAAAGT)
Alt rs863225447(CAGGAGAAAGT;CAGGAGAAAGT)
Reference Rs863225447(-;-)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene SLC13A5
CLNDBN Epileptic encephalopathy, early infantile, 25
Reversed 1
HGVS NC_000017.10:g.6596421_6596431dupACTTTCTCCTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000202392.1,