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: rs121917867
rs121917867
MIP
2 0.925 0.040 12 56453703 missense variant G/A;C snv 4.0E-05 0.800 1.000 10 2000 2015
dbSNP: rs121917869
rs121917869
MIP
4 0.851 0.080 12 56453715 missense variant T/C;G snv 0.800 1.000 10 2000 2015
dbSNP: rs74641138
rs74641138
MIP
2 0.925 0.080 12 56454295 missense variant C/T snv 2.4E-02 2.0E-02 0.700 1.000 10 2000 2015
dbSNP: rs778327521
rs778327521
MIP
2 0.925 0.040 12 56453668 missense variant C/G;T snv 1.6E-05; 3.6E-05 0.700 1.000 10 2000 2015
dbSNP: rs1057519616
rs1057519616
MIP
1 1.000 12 56453607 frameshift variant -/G delins 0.700 0
dbSNP: rs1555179713
rs1555179713
MIP ; TIMELESS
1 1.000 12 56451449 frameshift variant G/- delins 0.700 0
dbSNP: rs267603585
rs267603585
MIP
2 0.925 0.200 12 56453119 missense variant G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs398122378
rs398122378
MIP ; TIMELESS
1 1.000 12 56451434 frameshift variant C/- delins 4.0E-06 0.700 0
dbSNP: rs864309693
rs864309693
MIP
3 0.882 0.200 12 56454517 missense variant G/A snv 0.700 0