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rs1538660

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 normal
Make rs1538660(C;T)
Make rs1538660(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position108879545
GeneIKBKAP
is asnp
is mentioned by
dbSNPrs1538660
ebirs1538660
HLIrs1538660
Exacrs1538660
Varsomers1538660
Maprs1538660
PheGenIrs1538660
hapmaprs1538660
1000 genomesrs1538660
hgdprs1538660
ensemblrs1538660
gopubmedrs1538660
geneviewrs1538660
scholarrs1538660
googlers1538660
pharmgkbrs1538660
gwascentralrs1538660
openSNPrs1538660
23andMers1538660
23andMe allrs1538660
SNP Nexus

SNPshotrs1538660
SNPdbers1538660
MSV3drs1538660
GWAS Ctlgrs1538660
GMAF0.2231
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene IKBKAP
allele A
frequency 0.125
sift TOLERATED
HuRef 1103652156740
Disease Association 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
IKBKAP-P1158L
aa_change Pro1158Leu
aa_change_short P1158L
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.214073
summary