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rs41307846

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs41307846(A;A)
Make rs41307846(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position2028260
GeneGABRD
is asnp
is mentioned by
dbSNPrs41307846
dbSNP (classic)rs41307846
ClinGenrs41307846
ebirs41307846
HLIrs41307846
Exacrs41307846
Gnomadrs41307846
Varsomers41307846
LitVarrs41307846
Maprs41307846
PheGenIrs41307846
Biobankrs41307846
1000 genomesrs41307846
hgdprs41307846
ensemblrs41307846
geneviewrs41307846
scholarrs41307846
googlers41307846
pharmgkbrs41307846
gwascentralrs41307846
openSNPrs41307846
23andMers41307846
SNPshotrs41307846
SNPdbers41307846
MSV3drs41307846
GWAS Ctlgrs41307846
GMAF0.009642
Max Magnitude0
OMIM137163
Desc
Variant0002
Relatedalso



ClinVar
Risk rs41307846(A;A)
Alt rs41307846(A;A)
Reference Rs41307846(G;G)
Significance Other
Disease Generalized epilepsy with febrile seizures plus type 5 Epilepsy
Variation info
Gene GABRD
CLNDBN Generalized epilepsy with febrile seizures plus type 5 Epilepsy, juvenile myoclonic 7 Epilepsy, idiopathic generalized 10
Reversed 0
HGVS NC_000001.10:g.1959699G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017599.2, RCV000017600.2, RCV000022558.2,