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: rs121912670
rs121912670
CHRNG
2 0.925 0.120 2 232542992 missense variant C/T snv 1.6E-05 1.4E-05 0.800 1.000 2 2006 2006
dbSNP: rs267606726
rs267606726
CHRNG
2 0.925 0.120 2 232540681 missense variant T/G snv 0.800 0
dbSNP: rs267606725
rs267606725
CHRNG
1 1.000 0.120 2 232539760 stop gained C/T snv 0.700 1.000 1 2006 2006
dbSNP: rs747067203
rs747067203
CHRNG
1 1.000 0.120 2 232541424 frameshift variant CT/- del 7.6E-05 1.0E-04 0.700 1.000 1 2006 2006
dbSNP: rs121912671
rs121912671
CHRNG
1 1.000 0.120 2 232545570 stop gained C/T snv 1.2E-05 0.700 0
dbSNP: rs121912672
rs121912672
CHRNG
1 1.000 0.120 2 232540072 stop gained C/T snv 5.6E-05; 4.0E-06 2.8E-05 0.700 0
dbSNP: rs764266722
rs764266722
CHRNG
2 0.925 0.120 2 232540387 stop gained C/A;T snv 8.0E-06; 2.0E-05 0.700 0
dbSNP: rs765746795
rs765746795
CHRNG
1 1.000 0.120 2 232541451 missense variant C/G snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs767503038
rs767503038
CHRNG
2 0.925 0.120 2 232543030 frameshift variant CT/- del 2.6E-04 0.700 0
dbSNP: rs774279192
rs774279192
CHRNG
1 1.000 0.120 2 232541481 frameshift variant -/A delins 3.5E-04 4.7E-04 0.700 0
dbSNP: rs863223313
rs863223313
CHRNG
1 1.000 0.120 2 232540660 inframe insertion -/AGGGTGCCG delins 0.700 0