{{Rsnum
|rsid=41307846
|Gene=GABRD
|Chromosome=1
|position=2028260
|Orientation=plus
|GMAF=0.009642
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=GABRD
}}{{omim
|id=137163
|rsnum=41307846
|variant=0002
}}

{{GET Evidence
|gene=GABRD
|aa_change=Arg220His
|aa_change_short=R220H
|impact=benign
|qualified_impact=Low clinical importance, Likely benign
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs41307846
|overall_frequency_n=174
|overall_frequency_d=10748
|overall_frequency=0.0161891
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=!
|qualitycomment_in_vitro=Y
|qualityscore_case_control=4
|qualitycomment_case_control=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.003
|genetests_testable=Y
|nblosum100=1
|autoscore=3
|webscore=N
|n_web_uneval=10
|variant_evidence=0
|clinical_importance=1
|summary_short=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
|rsid=41307846
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=2028260
|CHROM=1
|RS=41307846
|dbSNPBuildID=127
|SSR=0
|SAO=1
|VP=0x050260000a05040116110100
|GENEINFO=GABRD:2563
|GENE_NAME=GABRD
|GENE_ID=2563
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.2028260G>A
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_000815.4:c.659G>A; 137163.0002
|CLNSIG=255
|CLNDSDB=MedGen; MedGen:OMIM
|CLNDSDBID=C3150401; CN043549; C2751603:613060
|CLNDBN=Generalized epilepsy with febrile seizures plus type 5; Epilepsy, juvenile myoclonic 7; Epilepsy, idiopathic generalized 10
|Disease=Generalized epilepsy with febrile seizures plus type 5; Epilepsy
|CLNACC=RCV000017599.1; RCV000017600.1; RCV000022558.1
|CAF=0.9904; 0.009642
|COMMON=1
|Tags=PM;S3D;NSM;REF;ASP;VLD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}