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: rs397514603
rs397514603
CHM
1 1.000 0.080 X 85879054 missense variant T/C snv 0.810 1.000 3 1994 2011
dbSNP: rs776256380
rs776256380
CHM
1 1.000 0.080 X 85958965 stop gained G/A snv 0.710 1.000 1 2019 2019
dbSNP: rs886041179
rs886041179
CHM
1 1.000 0.080 X 85958881 stop gained G/A snv 0.710 1.000 1 2017 2017
dbSNP: rs786204761
rs786204761
CHM
1 1.000 0.080 X 86027490 splice donor variant C/A;T snv 0.700 1.000 4 1999 2006
dbSNP: rs386833676
rs386833676
CHM
1 1.000 0.080 X 85878962 splice donor variant -/A delins 1.2E-05 0.700 1.000 1 1992 1992
dbSNP: rs1057516265
rs1057516265
CHM
1 1.000 0.080 X 86047532 start lost T/C snv 0.700 0
dbSNP: rs132630263
rs132630263
CHM
1 1.000 0.080 X 85900700 stop gained GG/TC mnv 0.700 0
dbSNP: rs132630264
rs132630264
CHM
1 1.000 0.080 X 85894214 stop gained G/T snv 0.700 0
dbSNP: rs132630265
rs132630265
CHM
1 1.000 0.080 X 85894227 stop gained C/A snv 0.700 0
dbSNP: rs132630266
rs132630266
CHM
1 1.000 0.080 X 85957918 stop gained G/A snv 0.700 0
dbSNP: rs132630267
rs132630267
CHM
1 1.000 0.080 X 85894201 stop gained G/T snv 0.700 0
dbSNP: rs1555958073
rs1555958073
CHM
1 1.000 0.080 X 85978801 frameshift variant T/- delins 0.700 0
dbSNP: rs1556307713
rs1556307713
CHM
1 1.000 0.080 X 85957977 splice acceptor variant T/C snv 0.700 0
dbSNP: rs527236048
rs527236048
CHM
1 1.000 0.080 X 85958872 stop gained G/A snv 0.700 0
dbSNP: rs587776746
rs587776746
CHM
1 1.000 0.080 X 85878987 frameshift variant ACAA/- delins 9.5E-06 0.700 0