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: rs121912454
rs121912454
1 1.000 0.080 21 31668493 stop gained T/A;C snv 0.700 0
dbSNP: rs121912458
rs121912458
1 1.000 0.080 21 31667260 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1235629842
rs1235629842
1 1.000 0.080 21 31667373 missense variant G/C;T snv 4.0E-06 0.700 0
dbSNP: rs1301635320
rs1301635320
1 1.000 0.080 21 31667364 missense variant C/G;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs76731700
rs76731700
1 1.000 0.080 21 31667319 stop gained G/A;T snv 0.700 0
dbSNP: rs986277034
rs986277034
1 1.000 0.080 21 31663881 missense variant C/G snv 0.700 0
dbSNP: rs1476760624
rs1476760624
1 1.000 0.080 21 31668559 missense variant T/G snv 4.0E-06 0.710 1.000 1 1997 1997
dbSNP: rs1315541036
rs1315541036
2 0.925 0.080 21 31667273 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.710 1.000 1 2001 2001
dbSNP: rs1424014997
rs1424014997
3 0.882 0.080 21 31668562 missense variant T/C snv 8.0E-06 0.710 1.000 21 1993 2009
dbSNP: rs1169198442
rs1169198442
1 1.000 0.080 21 31659837 missense variant A/G;T snv 0.700 1.000 20 1993 2009
dbSNP: rs1280042397
rs1280042397
1 1.000 0.080 21 31667287 missense variant C/T snv 1.2E-05 7.0E-06 0.700 1.000 20 1993 2009
dbSNP: rs1339283341
rs1339283341
1 1.000 0.080 21 31667281 missense variant T/C snv 0.700 1.000 20 1993 2009
dbSNP: rs1378590183
rs1378590183
1 1.000 0.080 21 31667335 missense variant C/T snv 4.0E-06 0.700 1.000 20 1993 2009
dbSNP: rs1804449
rs1804449
1 1.000 0.080 21 31668533 missense variant C/A;T snv 1.2E-04 0.700 1.000 20 1993 2009
dbSNP: rs567511139
rs567511139
2 0.925 0.080 21 31668558 missense variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 20 1993 2009
dbSNP: rs80265967
rs80265967
16 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.800 1.000 20 1993 2009
dbSNP: rs121912442
rs121912442
7 0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05 0.830 1.000 36 1993 2012
dbSNP: rs121912431
rs121912431
11 0.742 0.160 21 31663829 missense variant G/A;C snv 0.890 0.969 32 1993 2012
dbSNP: rs121912440
rs121912440
3 0.882 0.080 21 31667337 missense variant C/G;T snv 0.800 1.000 28 1993 2012
dbSNP: rs121912435
rs121912435
2 0.925 0.080 21 31663848 missense variant A/G snv 4.0E-06 0.810 1.000 27 1993 2012
dbSNP: rs121912432
rs121912432
3 0.925 0.080 21 31663832 missense variant C/G snv 4.0E-06 0.810 1.000 24 1993 2012
dbSNP: rs121912439
rs121912439
4 0.851 0.080 21 31667320 missense variant A/G snv 0.810 1.000 24 1993 2012
dbSNP: rs121912448
rs121912448
2 0.925 0.080 21 31659789 missense variant G/A;T snv 0.810 1.000 24 1993 2012
dbSNP: rs121912452
rs121912452
6 0.807 0.120 21 31667271 missense variant T/C;G snv 4.0E-06 0.810 1.000 24 1993 2012
dbSNP: rs121912455
rs121912455
3 0.882 0.080 21 31666496 missense variant G/A;T snv 4.0E-06 0.810 1.000 24 1993 2012