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rs1060503228

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060503228(C;G)
Make rs1060503228(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position9834148
GeneGRIN2A
is asnp
is mentioned by
dbSNPrs1060503228
dbSNP (old)rs1060503228
ClinGenrs1060503228
ebirs1060503228
HLIrs1060503228
Exacrs1060503228
Gnomadrs1060503228
Varsomers1060503228
Maprs1060503228
PheGenIrs1060503228
Biobankrs1060503228
1000 genomesrs1060503228
hgdprs1060503228
ensemblrs1060503228
gopubmedrs1060503228
geneviewrs1060503228
scholarrs1060503228
googlers1060503228
pharmgkbrs1060503228
gwascentralrs1060503228
openSNPrs1060503228
23andMers1060503228
23andMe allrs1060503228
SNPshotrs1060503228
SNPdbers1060503228
MSV3drs1060503228
GWAS Ctlgrs1060503228
Max Magnitude0
ClinVar
Risk rs1060503228(G;G)
Alt rs1060503228(G;G)
Reference Rs1060503228(C;C)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene GRIN2A
CLNDBN Epilepsy, focal, with speech disorder and with or without mental retardation
Reversed 1
HGVS NC_000016.9:g.9928005G>C
CLNSRC
CLNACC RCV000473955.1,