Have questions? Visit https://www.reddit.com/r/SNPedia

rs3204145

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 normal
Make rs3204145(A;A)
Make rs3204145(A;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position108889340
GeneIKBKAP
is asnp
is mentioned by
dbSNPrs3204145
ebirs3204145
HLIrs3204145
Exacrs3204145
Varsomers3204145
Maprs3204145
PheGenIrs3204145
hapmaprs3204145
1000 genomesrs3204145
hgdprs3204145
ensemblrs3204145
gopubmedrs3204145
geneviewrs3204145
scholarrs3204145
googlers3204145
pharmgkbrs3204145
gwascentralrs3204145
openSNPrs3204145
23andMers3204145
23andMe allrs3204145
SNP Nexus

SNPshotrs3204145
SNPdbers3204145
MSV3drs3204145
GWAS Ctlgrs3204145
GMAF0.2236
Max Magnitude0
? (A;A) (A;T) (T;T) 28


Venter snp
Source plos
Gene IKBKAP
allele T
frequency 0.133
sift TOLERATED
HuRef 1103652156790
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-C1072S
aa_change Cys1072Ser
aa_change_short C1072S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.214724
summary