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rs749052963

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs749052963(G;T)
Make rs749052963(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position108893986
GeneIKBKAP
is asnp
is mentioned by
dbSNPrs749052963
dbSNP (old)rs749052963
ClinGenrs749052963
ebirs749052963
HLIrs749052963
Exacrs749052963
Gnomadrs749052963
Varsomers749052963
Maprs749052963
PheGenIrs749052963
Biobankrs749052963
1000 genomesrs749052963
hgdprs749052963
ensemblrs749052963
gopubmedrs749052963
geneviewrs749052963
scholarrs749052963
googlers749052963
pharmgkbrs749052963
gwascentralrs749052963
openSNPrs749052963
23andMers749052963
23andMe allrs749052963
SNP Nexus

SNPshotrs749052963
SNPdbers749052963
MSV3drs749052963
GWAS Ctlgrs749052963
Max Magnitude0
ClinVar
Risk rs749052963(T;T)
Alt rs749052963(T;T)
Reference Rs749052963(G;G)
Significance Probable-Pathogenic
Disease Familial dysautonomia
Variation info
Gene IKBKAP
CLNDBN Familial dysautonomia
Reversed 0
HGVS NC_000009.11:g.111656266G>T
CLNSRC
CLNACC RCV000410939.1,