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: rs193922198
rs193922198
3 0.882 0.160 15 48488383 frameshift variant C/- del 0.700 0
dbSNP: rs201309310
rs201309310
2 0.925 0.040 15 48644711 missense variant T/C snv 1.5E-04 1.5E-04 0.700 0
dbSNP: rs397515757
rs397515757
10 0.752 0.200 15 48515382 splice region variant C/T snv 0.700 0
dbSNP: rs397515808
rs397515808
3 0.882 0.160 15 48470687 missense variant C/A;G;T snv 1.6E-05 0.700 0
dbSNP: rs727503475
rs727503475
3 0.882 0.120 3 30688512 splice donor variant G/A;T snv 0.700 0
dbSNP: rs770974455
rs770974455
2 0.925 0.040 2 189045834 missense variant C/A;T snv 8.0E-06 0.700 0
dbSNP: rs794728165
rs794728165
3 0.882 0.160 15 48520716 stop gained G/A snv 0.700 0
dbSNP: rs794728190
rs794728190
3 0.882 0.160 15 48496213 missense variant C/A;T snv 0.700 0
dbSNP: rs794728195
rs794728195
10 0.752 0.200 15 48495155 missense variant G/A snv 0.700 0
dbSNP: rs794728319
rs794728319
4 0.851 0.160 15 48427731 frameshift variant AT/- del 0.700 0
dbSNP: rs863223852
rs863223852
4 0.882 0.120 3 30688476 stop gained C/A;T snv 4.0E-06 0.700 0