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rs1057518688

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518688(-;-)
Make rs1057518688(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position151870850
GeneCACNB4
is asnp
is mentioned by
dbSNPrs1057518688
dbSNP (old)rs1057518688
ClinGenrs1057518688
ebirs1057518688
HLIrs1057518688
Exacrs1057518688
Gnomadrs1057518688
Varsomers1057518688
LitVarrs1057518688
Maprs1057518688
PheGenIrs1057518688
Biobankrs1057518688
1000 genomesrs1057518688
hgdprs1057518688
ensemblrs1057518688
gopubmedrs1057518688
geneviewrs1057518688
scholarrs1057518688
googlers1057518688
pharmgkbrs1057518688
gwascentralrs1057518688
openSNPrs1057518688
23andMers1057518688
23andMe allrs1057518688
SNPshotrs1057518688
SNPdbers1057518688
MSV3drs1057518688
GWAS Ctlgrs1057518688
Max Magnitude0
ClinVar
Risk rs1057518688(-;-)
Alt rs1057518688(-;-)
Reference Rs1057518688(C;C)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene CACNB4
CLNDBN Epilepsy, idiopathic generalized 9
Reversed 1
HGVS NC_000002.11:g.152727364delG
CLNSRC
CLNACC RCV000414849.1,