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rs119454949

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs119454949(A;A)
Make rs119454949(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position1205153
GeneCACNA1H
is asnp
is mentioned by
dbSNPrs119454949
dbSNP (classic)rs119454949
ClinGenrs119454949
ebirs119454949
HLIrs119454949
Exacrs119454949
Gnomadrs119454949
Varsomers119454949
LitVarrs119454949
Maprs119454949
PheGenIrs119454949
Biobankrs119454949
1000 genomesrs119454949
hgdprs119454949
ensemblrs119454949
geneviewrs119454949
scholarrs119454949
googlers119454949
pharmgkbrs119454949
gwascentralrs119454949
openSNPrs119454949
23andMers119454949
SNPshotrs119454949
SNPdbers119454949
MSV3drs119454949
GWAS Ctlgrs119454949
Max Magnitude0
OMIM607904
Desc
Variant0003
Relatedalso
ClinVar
Risk rs119454949(A;A)
Alt rs119454949(A;A)
Reference Rs119454949(G;G)
Significance Other
Disease Epilepsy
Variation info
Gene CACNA1H
CLNDBN Epilepsy, childhood absence 6
Reversed 0
HGVS NC_000016.9:g.1255153G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002822.2,