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rs763445509

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs763445509(-;C)
Make rs763445509(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position108900313
GeneIKBKAP
is asnp
is mentioned by
dbSNPrs763445509
dbSNP (classic)rs763445509
ClinGenrs763445509
ebirs763445509
HLIrs763445509
Exacrs763445509
Gnomadrs763445509
Varsomers763445509
LitVarrs763445509
Maprs763445509
PheGenIrs763445509
Biobankrs763445509
1000 genomesrs763445509
hgdprs763445509
ensemblrs763445509
geneviewrs763445509
scholarrs763445509
googlers763445509
pharmgkbrs763445509
gwascentralrs763445509
openSNPrs763445509
23andMers763445509
SNPshotrs763445509
SNPdbers763445509
MSV3drs763445509
GWAS Ctlgrs763445509
Max Magnitude0
ClinVar
Risk rs763445509(C;C)
Alt rs763445509(C;C)
Reference Rs763445509(-;-)
Significance Probable-Pathogenic
Disease Familial dysautonomia
Variation info
Gene IKBKAP
CLNDBN Familial dysautonomia
Reversed 0
HGVS NC_000009.11:g.111662594dupC
CLNSRC
CLNACC RCV000412398.1,