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: rs121912288
rs121912288
DKC1 ; SNORA56
2 0.925 0.120 X 154773152 missense variant C/T snv 0.820 1.000 15 1998 2019
dbSNP: rs121912292
rs121912292
DKC1
2 0.925 0.120 X 154765478 missense variant C/G snv 0.800 1.000 10 1998 2014
dbSNP: rs121912293
rs121912293
DKC1
2 0.925 0.120 X 154765465 missense variant T/G snv 0.800 1.000 10 1998 2014
dbSNP: rs121912294
rs121912294
DKC1
1 1.000 0.120 X 154765949 missense variant CT/TA mnv 0.800 1.000 10 1998 2014
dbSNP: rs121912295
rs121912295
DKC1 ; SNORA56
2 0.925 0.120 X 154774651 missense variant G/A snv 0.800 1.000 10 1998 2014
dbSNP: rs121912304
rs121912304
DKC1
2 0.925 0.120 X 154765505 missense variant C/T snv 0.800 1.000 5 1999 2014
dbSNP: rs121912305
rs121912305
DKC1
2 0.925 0.120 X 154766313 missense variant A/G snv 0.800 1.000 4 1999 2014
dbSNP: rs28936072
rs28936072
DKC1
4 0.851 0.200 X 154765472 missense variant T/C snv 0.800 1.000 1 2011 2011
dbSNP: rs121912287
rs121912287
DKC1
1 1.000 0.120 X 154765525 missense variant CT/TC mnv 0.700 1.000 10 1998 2014
dbSNP: rs121912289
rs121912289
DKC1 ; SNORA56
2 0.925 0.120 X 154774672 missense variant C/T snv 0.700 1.000 10 1998 2014
dbSNP: rs121912290
rs121912290
DKC1
2 0.925 0.120 X 154770792 missense variant C/G;T snv 0.700 1.000 10 1998 2014
dbSNP: rs121912291
rs121912291
DKC1
2 0.925 0.120 X 154770808 missense variant G/A snv 0.700 1.000 10 1998 2014
dbSNP: rs121912296
rs121912296
DKC1
2 0.925 0.120 X 154765474 missense variant A/G snv 0.700 1.000 10 1998 2014
dbSNP: rs121912297
rs121912297
DKC1
2 0.925 0.120 X 154765931 missense variant A/G snv 0.700 1.000 10 1998 2014
dbSNP: rs121912298
rs121912298
DKC1 ; SNORA56
2 0.925 0.120 X 154773144 missense variant G/A snv 0.700 1.000 10 1998 2014
dbSNP: rs121912299
rs121912299
DKC1 ; SNORA56
2 0.925 0.120 X 154774650 missense variant G/A snv 0.700 1.000 10 1998 2014
dbSNP: rs121912300
rs121912300
DKC1 ; SNORA56
2 0.925 0.120 X 154773143 missense variant T/C snv 0.700 1.000 10 1998 2014
dbSNP: rs121912301
rs121912301
DKC1
2 0.925 0.120 X 154765929 missense variant G/C snv 0.700 1.000 10 1998 2014
dbSNP: rs121912302
rs121912302
DKC1
2 0.925 0.120 X 154765480 missense variant G/A snv 0.700 1.000 10 1998 2014
dbSNP: rs121912303
rs121912303
DKC1
2 0.925 0.120 X 154762970 missense variant C/T snv 0.700 1.000 10 1998 2014
dbSNP: rs121912306
rs121912306
DKC1
2 0.925 0.120 X 154765949 missense variant C/T snv 0.700 1.000 10 1998 2014
dbSNP: rs199422241
rs199422241
DKC1
2 0.925 0.120 X 154762824 5 prime UTR variant C/G snv 2.3E-03 0.700 1.000 2 2001 2002
dbSNP: rs1557264102
rs1557264102
DKC1
1 1.000 0.120 X 154765938 missense variant A/G snv 0.700 1.000 1 2018 2018
dbSNP: rs2728726
rs2728726
DKC1
2 0.925 0.120 X 154770804 missense variant C/A;G snv 0.700 1.000 1 2011 2011
dbSNP: rs1057520719
rs1057520719
DKC1 ; SNORA56
1 1.000 0.120 X 154773227 missense variant G/A snv 0.700 0