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: rs398122416
rs398122416
MAGEL2
1 1.000 0.080 15 23645941 frameshift variant G/- delins 0.700 1.000 1 2013 2013
dbSNP: rs398122417
rs398122417
MAGEL2
1 1.000 0.080 15 23644561 frameshift variant AT/- delins 0.700 1.000 1 2013 2013
dbSNP: rs398122418
rs398122418
MAGEL2
1 1.000 0.080 15 23644619 stop gained G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1060499934
rs1060499934
MAGEL2
1 1.000 0.080 15 23644785 frameshift variant C/- delins 0.700 0
dbSNP: rs1250752332
rs1250752332
MAGEL2
1 1.000 0.080 15 23647705 frameshift variant -/TG delins 0.700 0
dbSNP: rs1555374227
rs1555374227
MAGEL2
1 1.000 0.080 15 23645625 frameshift variant A/- delins 0.700 0
dbSNP: rs1555374290
rs1555374290
MAGEL2
1 1.000 0.080 15 23646122 stop gained G/A snv 0.700 0
dbSNP: rs1566784441
rs1566784441
MAGEL2
1 1.000 0.080 15 23645982 stop gained C/T snv 0.700 0
dbSNP: rs398122415
rs398122415
MAGEL2
1 1.000 0.080 15 23646091 frameshift variant A/- del 0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs797044883
rs797044883
MAGEL2
4 0.882 0.160 15 23645831 stop gained G/A snv 0.700 0
dbSNP: rs866419580
rs866419580
MAGEL2
1 1.000 0.080 15 23645981 stop gained G/A;T snv 0.700 0
dbSNP: rs869312694
rs869312694
MAGEL2
3 0.925 0.120 15 23644535 stop gained C/A snv 0.700 0
dbSNP: rs1004357606
rs1004357606
SIM1
1 1.000 0.080 6 100390921 missense variant T/C snv 4.0E-06 6.3E-05 0.010 1.000 1 2013 2013
dbSNP: rs201038781
rs201038781
SIM1
1 1.000 0.080 6 100453836 missense variant C/G;T snv 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs756633599
rs756633599
SIM1
2 0.925 0.080 6 100447299 missense variant G/A snv 1.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs757139012
rs757139012
SIM1
3 0.882 0.080 6 100390522 missense variant T/C snv 8.0E-06; 4.0E-06 1.4E-05 0.010 1.000 1 2013 2013