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rs121912704

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912704(C;G)
Make rs121912704(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position63480479
GeneACE
is asnp
is mentioned by
dbSNPrs121912704
dbSNP (classic)rs121912704
ClinGenrs121912704
ebirs121912704
HLIrs121912704
Exacrs121912704
Gnomadrs121912704
Varsomers121912704
LitVarrs121912704
Maprs121912704
PheGenIrs121912704
Biobankrs121912704
1000 genomesrs121912704
hgdprs121912704
ensemblrs121912704
geneviewrs121912704
scholarrs121912704
googlers121912704
pharmgkbrs121912704
gwascentralrs121912704
openSNPrs121912704
23andMers121912704
SNPshotrs121912704
SNPdbers121912704
MSV3drs121912704
GWAS Ctlgrs121912704
Max Magnitude0
OMIM106180
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912704(G;G)
Alt rs121912704(G;G)
Reference Rs121912704(C;C)
Significance Pathogenic
Disease Renal dysplasia
Variation info
Gene ACE
CLNDBN Renal dysplasia
Reversed 0
HGVS NC_000017.10:g.61557840C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019686.28,