Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1538660

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 normal
(C;T) 0.1 Likely to be a benign variant
Make rs1538660(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position108879545
GeneIKBKAP
is asnp
is mentioned by
dbSNPrs1538660
dbSNP (old)rs1538660
ClinGenrs1538660
ebirs1538660
HLIrs1538660
Exacrs1538660
Gnomadrs1538660
Varsomers1538660
Maprs1538660
PheGenIrs1538660
Biobankrs1538660
1000 genomesrs1538660
hgdprs1538660
ensemblrs1538660
gopubmedrs1538660
geneviewrs1538660
scholarrs1538660
googlers1538660
pharmgkbrs1538660
gwascentralrs1538660
openSNPrs1538660
23andMers1538660
23andMe allrs1538660
SNPshotrs1538660
SNPdbers1538660
MSV3drs1538660
GWAS Ctlgrs1538660
GMAF0.2231
Max Magnitude0.1
? (C;C) (C;T) (T;T) 28



ClinVar
Risk rs1538660(T;T)
Alt rs1538660(T;T)
Reference Rs1538660(C;C)
Significance Probable-non-pathogenic
Disease not specified Familial dysautonomia
Variation info
Gene IKBKAP
CLNDBN not specified Familial dysautonomia
Reversed 1
HGVS NC_000009.11:g.111641825G>A
CLNSRC
CLNACC RCV000245565.1, RCV000268649.1,