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rs140451304

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs140451304(C;G)
Make rs140451304(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position44333188
GeneC21orf2
is asnp
is mentioned by
dbSNPrs140451304
dbSNP (old)rs140451304
ClinGenrs140451304
ebirs140451304
HLIrs140451304
Exacrs140451304
Gnomadrs140451304
Varsomers140451304
Maprs140451304
PheGenIrs140451304
Biobankrs140451304
1000 genomesrs140451304
hgdprs140451304
ensemblrs140451304
gopubmedrs140451304
geneviewrs140451304
scholarrs140451304
googlers140451304
pharmgkbrs140451304
gwascentralrs140451304
openSNPrs140451304
23andMers140451304
23andMe allrs140451304
SNPshotrs140451304
SNPdbers140451304
MSV3drs140451304
GWAS Ctlgrs140451304
Max Magnitude0
ClinVar
Risk rs140451304(G;G) rs140451304(T;T)
Alt rs140451304(G;G) rs140451304(T;T)
Reference Rs140451304(C;C)
Significance Pathogenic
Disease Spondylometaphyseal dysplasia axial
Variation info
Gene C21orf2
CLNDBN Spondylometaphyseal dysplasia axial
Reversed 0
HGVS NC_000021.8:g.45753071C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000492059.1,