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rs1060499553

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499553(A;A)
Make rs1060499553(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position161890983
GeneGABRA1
is asnp
is mentioned by
dbSNPrs1060499553
dbSNP (old)rs1060499553
ClinGenrs1060499553
ebirs1060499553
HLIrs1060499553
Exacrs1060499553
Gnomadrs1060499553
Varsomers1060499553
Maprs1060499553
PheGenIrs1060499553
Biobankrs1060499553
1000 genomesrs1060499553
hgdprs1060499553
ensemblrs1060499553
gopubmedrs1060499553
geneviewrs1060499553
scholarrs1060499553
googlers1060499553
pharmgkbrs1060499553
gwascentralrs1060499553
openSNPrs1060499553
23andMers1060499553
23andMe allrs1060499553
SNPshotrs1060499553
SNPdbers1060499553
MSV3drs1060499553
GWAS Ctlgrs1060499553
Max Magnitude0
ClinVar
Risk rs1060499553(A;A)
Alt rs1060499553(A;A)
Reference Rs1060499553(G;G)
Significance Probable-Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene GABRA1
CLNDBN Epileptic encephalopathy, early infantile, 19
Reversed 0
HGVS NC_000005.9:g.161317989G>A
CLNSRC
CLNACC RCV000454498.1,