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rs3204145

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;T) 0.1 Likely to be a benign variant
(T;T) 0 normal


Make rs3204145(A;A)
ReferenceGRCh38 38.1/141
Chromosome9
Position108889340
GeneIKBKAP
is asnp
is mentioned by
dbSNPrs3204145
dbSNP (old)rs3204145
ClinGenrs3204145
ebirs3204145
HLIrs3204145
Exacrs3204145
Gnomadrs3204145
Varsomers3204145
Maprs3204145
PheGenIrs3204145
Biobankrs3204145
1000 genomesrs3204145
hgdprs3204145
ensemblrs3204145
gopubmedrs3204145
geneviewrs3204145
scholarrs3204145
googlers3204145
pharmgkbrs3204145
gwascentralrs3204145
openSNPrs3204145
23andMers3204145
23andMe allrs3204145
SNPshotrs3204145
SNPdbers3204145
MSV3drs3204145
GWAS Ctlgrs3204145
GMAF0.2236
Max Magnitude0.1
? (A;A) (A;T) (T;T) 28




ClinVar
Risk rs3204145(A;A) rs3204145(C;C)
Alt rs3204145(A;A) rs3204145(C;C)
Reference Rs3204145(T;T)
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.111651620A>T
CLNSRC
CLNACC RCV000250637.1, RCV000280679.1,