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: rs1555112332
rs1555112332
1 1.000 0.040 12 6355814 frameshift variant G/- delins 0.700 1.000 2 1999 2013
dbSNP: rs141723617
rs141723617
1 1.000 0.040 7 117530999 missense variant T/C snv 7.1E-04 2.7E-04 0.010 1.000 1 2006 2006
dbSNP: rs201823199
rs201823199
1 1.000 0.040 1 205923132 missense variant G/A snv 9.9E-05 9.1E-05 0.010 1.000 1 2013 2013
dbSNP: rs111966833
rs111966833
8 0.776 0.320 5 147828053 missense variant G/A;C snv 4.5E-03 0.010 1.000 1 2014 2014
dbSNP: rs17107315
rs17107315
40 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1.000 1 2014 2014
dbSNP: rs1800076
rs1800076
10 0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 0.010 1.000 1 2014 2014