Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1800097
rs1800097
CFTR
0.925 0.160 7 117590357 missense variant G/A;C snv 1.4E-04; 4.8E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.700 1.000 14 2001 2015
dbSNP: rs1800097
rs1800097
CFTR
0.925 0.160 7 117590357 missense variant G/A;C snv 1.4E-04; 4.8E-05
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		0.700 0