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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
ebirs41307846
HLIrs41307846
Exacrs41307846
Varsomers41307846
Maprs41307846
PheGenIrs41307846
hapmaprs41307846
1000 genomesrs41307846
hgdprs41307846
ensemblrs41307846
gopubmedrs41307846
geneviewrs41307846
scholarrs41307846
googlers41307846
pharmgkbrs41307846
gwascentralrs41307846
openSNPrs41307846
23andMers41307846
23andMe allrs41307846
SNP Nexus

SNPshotrs41307846
SNPdbers41307846
MSV3drs41307846
GWAS Ctlgrs41307846
GMAF0.009642
Max Magnitude0
OMIM137163
Desc
Variant0002
Relatedalso


GET Evidence
GABRD-R220H
aa_change Arg220His
aa_change_short R220H
impact benign
qualified_impact Low clinical importance, Likely benign
overall_frequency 0.0161891
summary Probably benign, one report hypothesized this variant was associated with epilepsy, but a follow-up investigation failed to establish any statistically significant difference for this variant's incidence in control vs. affected populations.



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
CLNACC RCV000017599.2, RCV000017600.2, RCV000022558.2,