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rs746231039

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs746231039(-;-)
Make rs746231039(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position130593027
GeneCFC1, POTEI
is asnp
is mentioned by
dbSNPrs746231039
dbSNP (old)rs746231039
ClinGenrs746231039
ebirs746231039
HLIrs746231039
Exacrs746231039
Gnomadrs746231039
Varsomers746231039
Maprs746231039
PheGenIrs746231039
Biobankrs746231039
1000 genomesrs746231039
hgdprs746231039
ensemblrs746231039
gopubmedrs746231039
geneviewrs746231039
scholarrs746231039
googlers746231039
pharmgkbrs746231039
gwascentralrs746231039
openSNPrs746231039
23andMers746231039
23andMe allrs746231039
SNP Nexus

SNPshotrs746231039
SNPdbers746231039
MSV3drs746231039
GWAS Ctlgrs746231039
Max Magnitude0
ClinVar
Risk rs746231039(-;-)
Alt rs746231039(-;-)
Reference Rs746231039(G;G)
Significance Pathogenic
Disease Heterotaxy
Variation info
Gene CFC1
CLNDBN Heterotaxy, visceral, 2, autosomal
Reversed 0
HGVS NC_000002.11:g.131350600delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000005497.4,