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: rs199722402
rs199722402
3 1.000 0.107 15 40987186 missense variant C/T snp 3.1E-04 7.0E-04 0.700 1 2015 2015
dbSNP: rs587777036
rs587777036
3 0.923 0.107 12 8939418 missense variant C/T snp 0.700 1 2015 2015
dbSNP: rs730882212
rs730882212
4 0.923 0.107 2 130194199 missense variant G/A snp 7.2E-05; 4.0E-06 0.700 1 2015 2015
dbSNP: rs730882223
rs730882223
4 0.923 0.107 1 184054736 missense variant T/G snp 0.700 1 2015 2015
dbSNP: rs730882224
rs730882224
3 0.923 0.107 19 49861819 frameshift variant T/TGTCGATGGCGACCCGTT in-del 0.700 1 2015 2015
dbSNP: rs730882226
rs730882226
3 1.000 0.107 15 41071953 missense variant A/G snp 1.6E-05 0.700 1 2015 2015
dbSNP: rs730882227
rs730882227
3 1.000 0.107 5 69509604 frameshift variant T/TT in-del 0.700 1 2015 2015
dbSNP: rs121434311
rs121434311
2 0.923 0.107 13 24884083 missense variant T/A snp 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs387907082
rs387907082
2 0.923 0.107 19 36081512 missense variant G/A snp 0.010 1.000 1 2014 2014