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rs121908170

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908170(C;T)
Make rs121908170(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position110064595
GeneALX3
is asnp
is mentioned by
dbSNPrs121908170
dbSNP (classic)rs121908170
ClinGenrs121908170
ebirs121908170
HLIrs121908170
Exacrs121908170
Gnomadrs121908170
Varsomers121908170
LitVarrs121908170
Maprs121908170
PheGenIrs121908170
Biobankrs121908170
1000 genomesrs121908170
hgdprs121908170
ensemblrs121908170
geneviewrs121908170
scholarrs121908170
googlers121908170
pharmgkbrs121908170
gwascentralrs121908170
openSNPrs121908170
23andMers121908170
SNPshotrs121908170
SNPdbers121908170
MSV3drs121908170
GWAS Ctlgrs121908170
GMAF0.0004591
Max Magnitude0
OMIM606014
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121908170(T;T)
Alt rs121908170(T;T)
Reference Rs121908170(C;C)
Significance Pathogenic
Disease Frontonasal dysplasia 1
Variation info
Gene ALX3
CLNDBN Frontonasal dysplasia 1
Reversed 1
HGVS NC_000001.10:g.110607217G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004911.5,