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rs397514689

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514689(C;T)
Make rs397514689(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position63488713
GeneACE
is asnp
is mentioned by
dbSNPrs397514689
dbSNP (classic)rs397514689
ClinGenrs397514689
ebirs397514689
HLIrs397514689
Exacrs397514689
Gnomadrs397514689
Varsomers397514689
LitVarrs397514689
Maprs397514689
PheGenIrs397514689
Biobankrs397514689
1000 genomesrs397514689
hgdprs397514689
ensemblrs397514689
geneviewrs397514689
scholarrs397514689
googlers397514689
pharmgkbrs397514689
gwascentralrs397514689
openSNPrs397514689
23andMers397514689
SNPshotrs397514689
SNPdbers397514689
MSV3drs397514689
GWAS Ctlgrs397514689
Max Magnitude0
ClinVar
Risk rs397514689(T;T)
Alt rs397514689(T;T)
Reference Rs397514689(C;C)
Significance Pathogenic
Disease Renal dysplasia
Variation info
Gene ACE
CLNDBN Renal dysplasia
Reversed 0
HGVS NC_000017.10:g.61566074C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000043471.29,