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: rs368134354
rs368134354
SPINK5
3 0.925 0.080 5 148104940 intron variant G/A;C;T snv 3.3E-05; 4.1E-06; 8.3E-06 0.700 0
dbSNP: rs752941297
rs752941297
SPINK5
3 0.925 0.080 5 148097875 synonymous variant C/T snv 2.0E-05 4.2E-05 0.700 0