Source: CURATED ×
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: rs1553134935
rs1553134935
CTRC
1 1.000 0.040 1 15445655 frameshift variant CATCG/- delins 0.700 0