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rs104893835

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893835(C;T)
Make rs104893835(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position13819120
GeneWNT7A
is asnp
is mentioned by
dbSNPrs104893835
dbSNP (classic)rs104893835
ClinGenrs104893835
ebirs104893835
HLIrs104893835
Exacrs104893835
Gnomadrs104893835
Varsomers104893835
LitVarrs104893835
Maprs104893835
PheGenIrs104893835
Biobankrs104893835
1000 genomesrs104893835
hgdprs104893835
ensemblrs104893835
geneviewrs104893835
scholarrs104893835
googlers104893835
pharmgkbrs104893835
gwascentralrs104893835
openSNPrs104893835
23andMers104893835
SNPshotrs104893835
SNPdbers104893835
MSV3drs104893835
GWAS Ctlgrs104893835
Max Magnitude0
OMIM601570
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104893835(T;T)
Alt rs104893835(T;T)
Reference Rs104893835(C;C)
Significance Pathogenic
Disease Ulna and fibula absence of with severe limb deficiency
Variation info
Gene WNT7A
CLNDBN Ulna and fibula absence of with severe limb deficiency
Reversed 1
HGVS NC_000003.11:g.13860617G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008526.3,