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: rs193302872
rs193302872
SERPINF1
1 1.000 0.120 17 1775110 stop gained C/G snv 0.700 0
dbSNP: rs193302873
rs193302873
SERPINF1
1 1.000 0.120 17 1777321 stop gained C/G;T snv 0.700 0
dbSNP: rs398122518
rs398122518
SERPINF1
1 1.000 0.120 17 1769885 frameshift variant TG/- delins 0.700 0
dbSNP: rs398122519
rs398122519
SERPINF1
1 1.000 0.120 17 1762114 splice donor variant -/T delins 0.700 0
dbSNP: rs398122520
rs398122520
SERPINF1
1 1.000 0.120 17 1775067 frameshift variant T/- del 0.700 0
dbSNP: rs869312908
rs869312908
SERPINF1
1 1.000 0.120 17 1777334 frameshift variant CCCGCTGGACTATCACCTT/- delins 0.700 0