{{Rsnum
|rsid=3204145
|Gene=IKBKAP
|Chromosome=9
|position=108889340
|Orientation=minus
|ReferenceAllele=T
|MissenseAllele=A
|GMAF=0.2236
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene_s=IKBKAP
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;T)
| geno3=(T;T)
| CEU | 3.1 | 20.0 | 76.9
| HCB | 11.1 | 35.6 | 53.3
| JPT | 11.4 | 36.4 | 52.3
| YRI | 6.3 | 52.4 | 41.3
| ASW | 0.0 | 0.0 | 0.0
| CHB | 11.1 | 35.6 | 53.3
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=3204145
|allele=T
|frequency=0.133
|uid=1103652156790
|type=heterozygous_SNP
|hugo=IKBKAP
|ensembl gene=ENSG00000070061
|ensembl transcript=ENST00000374647
|sift=TOLERATED
|disease=Defects in IKBKAP are the cause of familial dysautonomia (FD) (MIM:223900); also known as Riley-Day syndrome or hereditary sensory and autonomic neuropathy type III. This autosomal recessive disorder is due to the poor development and survival, and progressive degeneration of the sensory, sympathetic and parasympathetic neurons. FD individuals are affected with a variety of symptoms such as decreased sensitivity to pain and temperature, cardiovascular instability, recurrent pneumonias, vomiting crises, and gastrointestinal dysfunction. It is primarily confined to individuals of Ashkenazi Jewish descent, with an incidence of 1/3600 live births.
}}

{{GET Evidence
|gene=IKBKAP
|aa_change=Cys1072Ser
|aa_change_short=C1072S
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3204145
|overall_frequency_n=2310
|overall_frequency_d=10758
|overall_frequency=0.214724
|n_genomes=30
|n_genomes_annotated=0
|n_haplomes=34
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=3
|autoscore=3
|n_web_uneval=1
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Affy500k}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}