Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1223231582
rs1223231582
PRSS1
24 0.677 0.280 7 142750639 missense variant A/G snv 7.0E-06 0.020 1.000 2 2011 2011
dbSNP: rs17107315
rs17107315
SPINK1
40 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.020 1.000 2 2011 2011
dbSNP: rs1303
rs1303
SERPINA1
4 0.925 0.040 14 94378506 missense variant T/G snv 0.28 0.22 0.010 1.000 1 2002 2002
dbSNP: rs1800111
rs1800111
CFTR
5 0.882 0.160 7 117610521 missense variant G/C snv 2.3E-03 2.1E-03 0.010 1.000 1 2007 2007