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: rs13306026
rs13306026
1 1.000 0.040 20 49511026 splice donor variant A/G snv 3.6E-05 1.4E-05 0.700 0
dbSNP: rs5629
rs5629
3 0.925 0.080 20 49513169 stop gained G/A;T snv 4.0E-06; 0.25 0.010 < 0.001 1 2003 2003