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rs1057516865

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516865(-;-)
Make rs1057516865(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position108899868
GeneIKBKAP
is asnp
is mentioned by
dbSNPrs1057516865
dbSNP (old)rs1057516865
ClinGenrs1057516865
ebirs1057516865
HLIrs1057516865
Exacrs1057516865
Gnomadrs1057516865
Varsomers1057516865
Maprs1057516865
PheGenIrs1057516865
Biobankrs1057516865
1000 genomesrs1057516865
hgdprs1057516865
ensemblrs1057516865
gopubmedrs1057516865
geneviewrs1057516865
scholarrs1057516865
googlers1057516865
pharmgkbrs1057516865
gwascentralrs1057516865
openSNPrs1057516865
23andMers1057516865
23andMe allrs1057516865
SNPshotrs1057516865
SNPdbers1057516865
MSV3drs1057516865
GWAS Ctlgrs1057516865
Max Magnitude0
ClinVar
Risk rs1057516865(-;-)
Alt rs1057516865(-;-)
Reference Rs1057516865(C;C)
Significance Probable-Pathogenic
Disease Familial dysautonomia
Variation info
Gene IKBKAP
CLNDBN Familial dysautonomia
Reversed 1
HGVS NC_000009.11:g.111662148delG
CLNSRC
CLNACC RCV000411836.1,