rs886037751, CFAP53

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
HETEROTAXY, VISCERAL, 6, AUTOSOMAL
CUI: C3553676
Disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL
2 0.925 0.080 18 50261065 missense variant T/C snv 1.3E-05 1.4E-05 0.700 1.000 2 2012 2016
Dextrocardia
CUI: C0011813
Disease: Dextrocardia
6 0.925 0.080 18 50261065 missense variant T/C snv 1.3E-05 1.4E-05 0.700 1.000 1 2016 2016