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: rs104894205
rs104894205
3 0.882 0.040 11 19188286 missense variant A/G snv 1.2E-05 5.6E-05 0.800 1.000 8 2003 2017
dbSNP: rs104894204
rs104894204
4 0.882 0.040 11 19188245 missense variant A/C snv 0.800 1.000 5 2003 2016
dbSNP: rs761507504
rs761507504
2 0.925 0.040 11 19185011 missense variant C/T snv 1.2E-05 7.0E-06 0.700 1.000 2 2013 2015
dbSNP: rs142019584
rs142019584
1 1.000 11 19182719 missense variant G/A;C snv 3.2E-05; 4.0E-06 3.5E-05 0.700 0
dbSNP: rs281865416
rs281865416
1 1.000 11 19188253 missense variant TCCGA/CCCCT mnv 0.700 0