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: rs121909721
rs121909721
MPV17
1 1.000 0.160 2 27313031 missense variant C/T snv 1.2E-05 0.820 1.000 16 2006 2019
dbSNP: rs267607258
rs267607258
MPV17
1 1.000 0.160 2 27312576 missense variant G/A;T snv 5.6E-05 0.800 1.000 18 2006 2019
dbSNP: rs121909723
rs121909723
MPV17
1 1.000 0.160 2 27313032 missense variant G/A snv 1.2E-05 7.0E-06 0.800 1.000 17 2006 2019
dbSNP: rs121909722
rs121909722
MPV17 ; UCN
1 1.000 0.160 2 27309945 missense variant G/T snv 0.800 1.000 16 2006 2019
dbSNP: rs267607256
rs267607256
MPV17
1 1.000 0.160 2 27312697 missense variant T/C snv 0.800 1.000 16 2006 2019
dbSNP: rs267607257
rs267607257
MPV17
1 1.000 0.160 2 27312589 missense variant C/A;G;T snv 0.800 1.000 16 2006 2019
dbSNP: rs267607259
rs267607259
MPV17 ; UCN
1 1.000 0.160 2 27309958 stop gained G/T snv 0.800 1.000 16 2006 2019
dbSNP: rs267607260
rs267607260
MPV17 ; UCN
1 1.000 0.160 2 27309934 missense variant G/A snv 0.800 1.000 16 2006 2019
dbSNP: rs886044113
rs886044113
MPV17
1 1.000 0.160 2 27311899 missense variant C/A;G snv 0.800 1.000 16 2006 2019
dbSNP: rs375401970
rs375401970
MPV17
1 1.000 0.160 2 27312768 missense variant G/C snv 7.2E-05 7.7E-05 0.800 1.000 2 2014 2014
dbSNP: rs121909725
rs121909725
MPV17
1 1.000 0.160 2 27322448 missense variant C/A snv 0.700 1.000 16 2006 2019
dbSNP: rs762327729
rs762327729
MPV17
1 1.000 0.160 2 27313073 missense variant T/G snv 4.0E-06 0.700 1.000 16 2006 2019
dbSNP: rs1057524366
rs1057524366
MPV17
1 1.000 0.160 2 27312684 missense variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs121909724
rs121909724
MPV17
1 1.000 0.160 2 27312510 stop gained C/T snv 8.0E-06 7.0E-06 0.700 1.000 1 2008 2008
dbSNP: rs1553383467
rs1553383467
MPV17
1 1.000 0.160 2 27312572 stop gained A/T snv 0.700 1.000 1 2018 2018
dbSNP: rs267607261
rs267607261
MPV17
28 0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs863224072
rs863224072
MPV17
1 1.000 0.160 2 27313059 missense variant G/A snv 2.8E-05 0.700 1.000 1 2014 2014
dbSNP: rs1064793178
rs1064793178
MPV17
1 1.000 0.160 2 27312494 splice region variant C/G;T snv 0.700 0
dbSNP: rs147952488
rs147952488
MPV17
1 1.000 0.160 2 27312992 splice donor variant A/G snv 2.8E-05 1.2E-04 0.700 0
dbSNP: rs267607263
rs267607263
MPV17
1 1.000 0.160 2 27312694 inframe deletion TTC/- delins 1.6E-05 1.4E-05 0.700 0
dbSNP: rs267607266
rs267607266
MPV17
1 1.000 0.160 2 27322496 frameshift variant G/-;GG delins 8.0E-06 0.700 0
dbSNP: rs267607268
rs267607268
MPV17
1 1.000 0.160 2 27322443 splice region variant C/T snv 7.0E-06 0.700 0
dbSNP: rs397507438
rs397507438
MPV17
1 1.000 0.160 2 27313033 frameshift variant TGGTGTTCCTGCAGACCCCGCCTCTC/- delins 0.700 0
dbSNP: rs749361266
rs749361266
MPV17
1 1.000 0.160 2 27312213 splice donor variant C/T snv 8.0E-06 0.700 0
dbSNP: rs754051090
rs754051090
MPV17
1 1.000 0.160 2 27313074 stop gained G/A snv 0.700 0