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rs1060503517

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GTGGT;GTGGT) 0 common in clinvar
Make rs1060503517(-;-)
Make rs1060503517(-;TGGTG)
Make rs1060503517(TGGTG;TGGTG)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position92942895
GeneCHD2
is asnp
is mentioned by
dbSNPrs1060503517
dbSNP (classic)rs1060503517
ClinGenrs1060503517
ebirs1060503517
HLIrs1060503517
Exacrs1060503517
Gnomadrs1060503517
Varsomers1060503517
LitVarrs1060503517
Maprs1060503517
PheGenIrs1060503517
Biobankrs1060503517
1000 genomesrs1060503517
hgdprs1060503517
ensemblrs1060503517
geneviewrs1060503517
scholarrs1060503517
googlers1060503517
pharmgkbrs1060503517
gwascentralrs1060503517
openSNPrs1060503517
23andMers1060503517
23andMe allrs1060503517
SNPshotrs1060503517
SNPdbers1060503517
MSV3drs1060503517
GWAS Ctlgrs1060503517
Max Magnitude0
ClinVar
Risk rs1060503517(-;-)
Alt rs1060503517(-;-)
Reference Rs1060503517(GTGGT;GTGGT)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene CHD2
CLNDBN Epileptic encephalopathy, childhood-onset
Reversed 0
HGVS NC_000015.9:g.93486125_93486129delTGGTG
CLNSRC
CLNACC RCV000465957.1,