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: rs387907039
rs387907039
FA2H
1 1.000 0.080 16 74719071 missense variant G/A snv 4.0E-06 1.4E-05 0.810 1.000 3 2008 2010
dbSNP: rs121918217
rs121918217
FA2H
1 1.000 0.080 16 74774653 missense variant C/A snv 0.800 1.000 3 2008 2010
dbSNP: rs387907040
rs387907040
FA2H
1 1.000 0.080 16 74727290 missense variant G/A snv 2.4E-05 7.0E-06 0.800 1.000 3 2008 2010
dbSNP: rs1247665387
rs1247665387
FA2H
14 0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 0.700 0
dbSNP: rs1274600570
rs1274600570
FA2H
1 1.000 0.080 16 74716452 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs1567632441
rs1567632441
FA2H
1 1.000 0.080 16 74716476 missense variant C/T snv 0.700 0
dbSNP: rs1567633766
rs1567633766
FA2H
1 1.000 0.080 16 74718987 splice donor variant C/T snv 0.700 0
dbSNP: rs387907172
rs387907172
FA2H
1 1.000 0.080 16 74719067 missense variant A/G snv 0.700 0
dbSNP: rs587776891
rs587776891
FA2H
1 1.000 0.080 16 74726327 stop gained GT/- delins 0.700 0
dbSNP: rs759947457
rs759947457
FA2H
1 1.000 0.080 16 74774580 inframe deletion ATGTCCTGGCCCGCCCTG/- delins 0.700 0
dbSNP: rs863224870
rs863224870
FA2H
1 1.000 0.080 16 74726321 missense variant G/A snv 0.700 0
dbSNP: rs957683798
rs957683798
FA2H
1 1.000 0.080 16 74774654 stop gained G/C snv 0.700 0