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rs121908601

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908601(A;G)
Make rs121908601(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position105419192
GeneZFPM2
is asnp
is mentioned by
dbSNPrs121908601
dbSNP (classic)rs121908601
ClinGenrs121908601
ebirs121908601
HLIrs121908601
Exacrs121908601
Gnomadrs121908601
Varsomers121908601
LitVarrs121908601
Maprs121908601
PheGenIrs121908601
Biobankrs121908601
1000 genomesrs121908601
hgdprs121908601
ensemblrs121908601
geneviewrs121908601
scholarrs121908601
googlers121908601
pharmgkbrs121908601
gwascentralrs121908601
openSNPrs121908601
23andMers121908601
SNPshotrs121908601
SNPdbers121908601
MSV3drs121908601
GWAS Ctlgrs121908601
GMAF0.002296
Max Magnitude0
OMIM603693
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908601(G;G)
Alt rs121908601(G;G)
Reference Rs121908601(A;A)
Significance Pathogenic
Disease Tetralogy of Fallot Double outlet right ventricle Diaphragmatic hernia 3 46
Variation info
Gene ZFPM2
CLNDBN Tetralogy of Fallot Double outlet right ventricle Diaphragmatic hernia 3 46,XY sex reversal 9
Reversed 0
HGVS NC_000008.10:g.106431420A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006502.3, RCV000032713.3, RCV000172841.2, RCV000461090.1,