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rs1057519000

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TGCAGTGGGC;TGCAGTGGGC) 0 common in clinvar
Make rs1057519000(-;-)
Make rs1057519000(-;TGCAGTGGGC)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position48905400
GeneSLC35A2
is asnp
is mentioned by
dbSNPrs1057519000
dbSNP (classic)rs1057519000
ClinGenrs1057519000
ebirs1057519000
HLIrs1057519000
Exacrs1057519000
Gnomadrs1057519000
Varsomers1057519000
LitVarrs1057519000
Maprs1057519000
PheGenIrs1057519000
Biobankrs1057519000
1000 genomesrs1057519000
hgdprs1057519000
ensemblrs1057519000
geneviewrs1057519000
scholarrs1057519000
googlers1057519000
pharmgkbrs1057519000
gwascentralrs1057519000
openSNPrs1057519000
23andMers1057519000
23andMe allrs1057519000
SNPshotrs1057519000
SNPdbers1057519000
MSV3drs1057519000
GWAS Ctlgrs1057519000
Max Magnitude0
ClinVar
Risk rs1057519000(-;-)
Alt rs1057519000(-;-)
Reference Rs1057519000(TGCAGTGGGC;TGCAGTGGGC)
Significance Probable-Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene SLC35A2
CLNDBN Epileptic encephalopathy
Reversed 1
HGVS NC_000023.10:g.48762677_48762686delGCCCACTGCA
CLNSRC
CLNACC RCV000415123.1,