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rs104894469

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894469(A;A)
Make rs104894469(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position36663043
GeneLOC105370455, PAX9
is asnp
is mentioned by
dbSNPrs104894469
dbSNP (classic)rs104894469
ClinGenrs104894469
ebirs104894469
HLIrs104894469
Exacrs104894469
Gnomadrs104894469
Varsomers104894469
LitVarrs104894469
Maprs104894469
PheGenIrs104894469
Biobankrs104894469
1000 genomesrs104894469
hgdprs104894469
ensemblrs104894469
geneviewrs104894469
scholarrs104894469
googlers104894469
pharmgkbrs104894469
gwascentralrs104894469
openSNPrs104894469
23andMers104894469
SNPshotrs104894469
SNPdbers104894469
MSV3drs104894469
GWAS Ctlgrs104894469
Max Magnitude0
OMIM167416
Desc
Variant0013
Relatedalso
ClinVar
Risk rs104894469(A;A)
Alt rs104894469(A;A)
Reference Rs104894469(G;G)
Significance Pathogenic
Disease Tooth agenesis
Variation info
Gene PAX9
CLNDBN Tooth agenesis, selective, 3
Reversed 0
HGVS NC_000014.8:g.37132248G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014789.26,