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: rs121434311
rs121434311
3 0.882 0.120 13 24884083 missense variant T/A snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs199722402
rs199722402
3 0.925 0.120 15 40987186 missense variant C/T snv 3.1E-04 8.4E-04 0.700 0
dbSNP: rs730882226
rs730882226
3 0.925 0.120 15 41071953 missense variant A/G snv 1.6E-05 4.2E-05 0.700 0
dbSNP: rs730882227
rs730882227
3 0.925 0.120 5 69509603 frameshift variant -/T delins 0.700 0
dbSNP: rs587777036
rs587777036
3 0.925 0.120 12 8939418 missense variant C/T snv 0.700 0
dbSNP: rs730882224
rs730882224
3 0.882 0.120 19 49861818 frameshift variant -/GTCGATGGCGACCCGTT delins 0.700 0
dbSNP: rs775277800
rs775277800
4 0.851 0.120 18 70166989 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs730882223
rs730882223
4 0.851 0.120 1 184054736 missense variant T/G snv 0.700 0
dbSNP: rs730882212
rs730882212
4 0.851 0.120 2 130194199 missense variant G/A snv 7.2E-05; 4.0E-06 4.2E-05 0.700 0