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rs754348901

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs754348901(A;G)
Make rs754348901(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position108893941
GeneIKBKAP
is asnp
is mentioned by
dbSNPrs754348901
dbSNP (old)rs754348901
ClinGenrs754348901
ebirs754348901
HLIrs754348901
Exacrs754348901
Gnomadrs754348901
Varsomers754348901
Maprs754348901
PheGenIrs754348901
Biobankrs754348901
1000 genomesrs754348901
hgdprs754348901
ensemblrs754348901
gopubmedrs754348901
geneviewrs754348901
scholarrs754348901
googlers754348901
pharmgkbrs754348901
gwascentralrs754348901
openSNPrs754348901
23andMers754348901
23andMe allrs754348901
SNP Nexus

SNPshotrs754348901
SNPdbers754348901
MSV3drs754348901
GWAS Ctlgrs754348901
Max Magnitude0
ClinVar
Risk rs754348901(G;G)
Alt rs754348901(G;G)
Reference Rs754348901(A;A)
Significance Probable-Pathogenic
Disease Familial dysautonomia
Variation info
Gene IKBKAP
CLNDBN Familial dysautonomia
Reversed 0
HGVS NC_000009.11:g.111656221A>G
CLNSRC
CLNACC RCV000409912.1,