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rs1060499659

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499659(A;A)
Make rs1060499659(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position13615170
GeneGRIN2B, LOC105369668
is asnp
is mentioned by
dbSNPrs1060499659
dbSNP (old)rs1060499659
ClinGenrs1060499659
ebirs1060499659
HLIrs1060499659
Exacrs1060499659
Gnomadrs1060499659
Varsomers1060499659
Maprs1060499659
PheGenIrs1060499659
Biobankrs1060499659
1000 genomesrs1060499659
hgdprs1060499659
ensemblrs1060499659
gopubmedrs1060499659
geneviewrs1060499659
scholarrs1060499659
googlers1060499659
pharmgkbrs1060499659
gwascentralrs1060499659
openSNPrs1060499659
23andMers1060499659
23andMe allrs1060499659
SNPshotrs1060499659
SNPdbers1060499659
MSV3drs1060499659
GWAS Ctlgrs1060499659
Max Magnitude0
ClinVar
Risk rs1060499659(A;A)
Alt rs1060499659(A;A)
Reference Rs1060499659(G;G)
Significance Probable-Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene GRIN2B
CLNDBN Epileptic encephalopathy, early infantile, 27
Reversed 1
HGVS NC_000012.11:g.13768104C>T
CLNSRC
CLNACC RCV000449489.1,