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rs104894653

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894653(C;T)
Make rs104894653(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position46773743
GeneWNT3
is asnp
is mentioned by
dbSNPrs104894653
dbSNP (classic)rs104894653
ClinGenrs104894653
ebirs104894653
HLIrs104894653
Exacrs104894653
Gnomadrs104894653
Varsomers104894653
LitVarrs104894653
Maprs104894653
PheGenIrs104894653
Biobankrs104894653
1000 genomesrs104894653
hgdprs104894653
ensemblrs104894653
geneviewrs104894653
scholarrs104894653
googlers104894653
pharmgkbrs104894653
gwascentralrs104894653
openSNPrs104894653
23andMers104894653
SNPshotrs104894653
SNPdbers104894653
MSV3drs104894653
GWAS Ctlgrs104894653
Max Magnitude0
OMIM165330
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894653(T;T)
Alt rs104894653(T;T)
Reference Rs104894653(C;C)
Significance Pathogenic
Disease Tetraamelia
Variation info
Gene WNT3
CLNDBN Tetraamelia, autosomal recessive
Reversed 1
HGVS NC_000017.10:g.44851109G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014823.27,