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: rs17107315
rs17107315
SPINK1
40 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.700 1.000 17 2000 2017
dbSNP: rs121909293
rs121909293
CTRC
5 0.851 0.080 1 15445717 missense variant C/T snv 4.4E-03 3.8E-03 0.700 0
dbSNP: rs121909294
rs121909294
CTRC
3 0.925 0.040 1 15440524 stop gained G/A;T snv 2.4E-05 0.700 0