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rs1057517169

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517169(A;A)
Make rs1057517169(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position108899821
GeneIKBKAP
is asnp
is mentioned by
dbSNPrs1057517169
dbSNP (old)rs1057517169
ClinGenrs1057517169
ebirs1057517169
HLIrs1057517169
Exacrs1057517169
Gnomadrs1057517169
Varsomers1057517169
Maprs1057517169
PheGenIrs1057517169
Biobankrs1057517169
1000 genomesrs1057517169
hgdprs1057517169
ensemblrs1057517169
gopubmedrs1057517169
geneviewrs1057517169
scholarrs1057517169
googlers1057517169
pharmgkbrs1057517169
gwascentralrs1057517169
openSNPrs1057517169
23andMers1057517169
23andMe allrs1057517169
SNP Nexus

SNPshotrs1057517169
SNPdbers1057517169
MSV3drs1057517169
GWAS Ctlgrs1057517169
Max Magnitude0
ClinVar
Risk rs1057517169(A;A)
Alt rs1057517169(A;A)
Reference Rs1057517169(G;G)
Significance Probable-Pathogenic
Disease Familial dysautonomia
Variation info
Gene IKBKAP
CLNDBN Familial dysautonomia
Reversed 1
HGVS NC_000009.11:g.111662101C>T
CLNSRC
CLNACC RCV000409095.1,