Gene: SPINK1 ×
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: rs148954387
rs148954387
SPINK1
3 0.882 0.080 5 147828020 splice donor variant A/G;T snv 3.1E-04 0.700 0
dbSNP: rs17107315
rs17107315
SPINK1
40 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.100 0.967 30 2001 2017
dbSNP: rs111966833
rs111966833
SPINK1
8 0.776 0.320 5 147828053 missense variant G/A;C snv 4.5E-03 0.010 1.000 1 2005 2005