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rs28939712

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28939712(C;T)
Make rs28939712(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position108894062
GeneIKBKAP
is asnp
is mentioned by
dbSNPrs28939712
dbSNP (old)rs28939712
ClinGenrs28939712
ebirs28939712
HLIrs28939712
Exacrs28939712
Gnomadrs28939712
Varsomers28939712
Maprs28939712
PheGenIrs28939712
Biobankrs28939712
1000 genomesrs28939712
hgdprs28939712
ensemblrs28939712
gopubmedrs28939712
geneviewrs28939712
scholarrs28939712
googlers28939712
pharmgkbrs28939712
gwascentralrs28939712
openSNPrs28939712
23andMers28939712
23andMe allrs28939712
SNP Nexus

SNPshotrs28939712
SNPdbers28939712
MSV3drs28939712
GWAS Ctlgrs28939712
Max Magnitude0
OMIM603722
DescFAMILIAL DYSAUTONOMIA
Variant0003
Relatedalso
ClinVar
Risk rs28939712(T;T)
Alt rs28939712(T;T)
Reference Rs28939712(C;C)
Significance Pathogenic
Disease Familial dysautonomia
Variation info
Gene IKBKAP
CLNDBN Familial dysautonomia
Reversed 1
HGVS NC_000009.11:g.111656342G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006460.2,