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rs397514643

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514643(C;T)
Make rs397514643(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position13819330
GeneWNT7A
is asnp
is mentioned by
dbSNPrs397514643
ebirs397514643
HLIrs397514643
Exacrs397514643
Varsomers397514643
Maprs397514643
PheGenIrs397514643
hapmaprs397514643
1000 genomesrs397514643
hgdprs397514643
ensemblrs397514643
gopubmedrs397514643
geneviewrs397514643
scholarrs397514643
googlers397514643
pharmgkbrs397514643
gwascentralrs397514643
openSNPrs397514643
23andMers397514643
23andMe allrs397514643
SNP Nexus

SNPshotrs397514643
SNPdbers397514643
MSV3drs397514643
GWAS Ctlgrs397514643
Max Magnitude0
ClinVar
Risk rs397514643(T;T)
Alt rs397514643(T;T)
Reference rs397514643(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.13860827G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033175.3,