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rs1060503108

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs1060503108(-;-)
Make rs1060503108(-;AT)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position50387592
GeneCACNA2D2
is asnp
is mentioned by
dbSNPrs1060503108
dbSNP (classic)rs1060503108
ClinGenrs1060503108
ebirs1060503108
HLIrs1060503108
Exacrs1060503108
Gnomadrs1060503108
Varsomers1060503108
LitVarrs1060503108
Maprs1060503108
PheGenIrs1060503108
Biobankrs1060503108
1000 genomesrs1060503108
hgdprs1060503108
ensemblrs1060503108
geneviewrs1060503108
scholarrs1060503108
googlers1060503108
pharmgkbrs1060503108
gwascentralrs1060503108
openSNPrs1060503108
23andMers1060503108
23andMe allrs1060503108
SNPshotrs1060503108
SNPdbers1060503108
MSV3drs1060503108
GWAS Ctlgrs1060503108
Max Magnitude0
ClinVar
Risk rs1060503108(-;-)
Alt rs1060503108(-;-)
Reference Rs1060503108(AT;AT)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy
Variation info
Gene CACNA2D2
CLNDBN Early infantile epileptic encephalopathy
Reversed 1
HGVS NC_000003.11:g.50425023_50425024delAT
CLNSRC
CLNACC RCV000465189.1,