{{Rsnum
|rsid = 28939712
|Gene = IKBKAP
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=T
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Chromosome=9
|position=108894062
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=IKBKAP
}}{{omim
|desc=FAMILIAL DYSAUTONOMIA
|id=603722
|rsnum=28939712
|variant=0003
}}{{ClinVar
|rsid=28939712
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=111656342
|CHROM=9
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=IKBKAP:8518
|GENE_NAME=IKBKAP
|GENE_ID=8518
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000009.11:g.111656342G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=603722.0003
|CLNSIG=5
|CLNCUI=C0013364
|CLNDBN=Familial dysautonomia
|Disease=Familial dysautonomia
|CLNACC=RCV000006460.1
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1180:C0013364:223900:1764:29159009
}}