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: rs1006737
rs1006737
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.010 1.000 1 2013 2013
dbSNP: rs1009298200
rs1009298200
34 0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 0.700 0
dbSNP: rs1010184002
rs1010184002
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.040 0.500 4 2006 2014
dbSNP: rs104893851
rs104893851
6 1.000 0.080 4 145639572 stop gained C/T snv 1.6E-04 1.7E-04 0.700 0
dbSNP: rs104894483
rs104894483
3 0.925 0.120 15 68214373 stop gained C/A;G;T snv 6.8E-05; 2.6E-03; 2.0E-05; 4.0E-06 0.700 1.000 1 2002 2002
dbSNP: rs104894718
rs104894718
8 0.790 0.160 19 35033654 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 17 1998 2016
dbSNP: rs1057516032
rs1057516032
4 1.000 19 41970211 protein altering variant AGTCT/GA delins 0.700 1.000 1 2016 2016
dbSNP: rs1057516264
rs1057516264
13 0.776 0.280 11 6614968 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs1057517891
rs1057517891
1 15 89333346 stop gained G/A snv 0.700 0
dbSNP: rs1057518443
rs1057518443
3 1.000 0.040 X 120557964 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs1057518770
rs1057518770
6 1.000 15 25354536 missense variant C/T snv 0.700 0
dbSNP: rs1057518821
rs1057518821
5 1.000 1 42930671 frameshift variant -/C delins 0.700 0
dbSNP: rs1057518843
rs1057518843
19 0.790 0.240 14 87988523 missense variant C/T snv 0.700 0
dbSNP: rs1057518887
rs1057518887
7 0.925 0.160 4 25156851 splice region variant C/T snv 0.700 0
dbSNP: rs1057518921
rs1057518921
7 1.000 X 71132465 missense variant G/A snv 0.700 0
dbSNP: rs1057518932
rs1057518932
2 1.000 17 44855003 missense variant T/A snv 0.700 0
dbSNP: rs1057518961
rs1057518961
5 0.925 0.040 14 102012450 missense variant C/T snv 0.700 0
dbSNP: rs1057518963
rs1057518963
6 0.851 0.200 X 68210239 missense variant A/G snv 0.700 0
dbSNP: rs1057519436
rs1057519436
7 0.882 0.200 3 47846550 missense variant G/A snv 0.700 0
dbSNP: rs1057519438
rs1057519438
4 0.925 0.080 9 87969919 stop gained C/G;T snv 4.9E-06 0.700 0
dbSNP: rs1057519439
rs1057519439
5 1.000 0.120 2 195787135 missense variant A/G snv 0.700 0
dbSNP: rs1057519440
rs1057519440
3 1.000 0.040 X 51744647 missense variant G/A snv 0.700 0
dbSNP: rs1057519443
rs1057519443
7 0.882 0.200 2 201675255 missense variant A/G snv 0.700 0