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: rs1555639076
rs1555639076
BPTF
16 0.790 0.400 17 67893677 splice donor variant A/- delins 0.700 1.000 1 2017 2017
dbSNP: rs397507478
rs397507478
BRAF
12 0.790 0.440 7 140777014 missense variant C/A snv 0.700 0
dbSNP: rs1057518829
rs1057518829
CACNA1F
2 1.000 0.040 X 49230343 stop gained T/A snv 0.700 0
dbSNP: rs11873439
rs11873439
CCDC102B
2 1.000 0.040 18 69077051 intergenic variant A/C snv 0.17 0.010 1.000 1 2018 2018
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs10033900
rs10033900
CFI
7 0.807 0.040 4 109737911 intron variant T/C snv 0.54 0.010 1.000 1 2012 2012
dbSNP: rs1057518891
rs1057518891
CHD7
6 0.851 0.120 8 60854479 stop gained C/T snv 0.700 0
dbSNP: rs1064583
rs1064583
COL10A1 ; NT5DC1
2 0.925 0.040 6 116125413 missense variant A/C;G snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs1553200431
rs1553200431
COL11A1
8 0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins 0.700 0
dbSNP: rs1635529
rs1635529
COL2A1
2 0.925 0.040 12 48001319 intron variant T/G snv 0.78 0.010 1.000 1 2012 2012
dbSNP: rs121912882
rs121912882
COL2A1 ; LOC105369752
4 0.851 0.280 12 47979534 missense variant G/A snv 0.700 0
dbSNP: rs533297350
rs533297350
COL4A4
5 1.000 0.040 2 227010441 missense variant C/T snv 7.2E-05 3.5E-05 0.700 0
dbSNP: rs569681869
rs569681869
COL4A4
6 0.925 0.040 2 227059468 missense variant C/G snv 7.2E-05 3.5E-05 0.700 0
dbSNP: rs3760753
rs3760753
COL5A3 ; RDH8
1 1.000 0.040 19 10011783 upstream gene variant G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1569518070
rs1569518070
COL6A1
33 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
dbSNP: rs669676
rs669676
COL8A1
2 1.000 0.040 3 99730008 intron variant A/G snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs34016308
rs34016308
CPSF2
1 1.000 0.040 14 92149397 intron variant -/TA delins 0.19 0.700 1.000 1 2016 2016
dbSNP: rs397515624
rs397515624
CRYAA ; LOC107987300
4 0.851 0.040 21 43169133 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs6885224
rs6885224
CTNND2
3 0.882 0.040 5 11169833 intron variant C/A;T snv 0.020 1.000 2 2011 2014
dbSNP: rs12716080
rs12716080
CTNND2
3 0.882 0.040 5 11166836 intron variant G/T snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs2155413
rs2155413
DLG2
1 1.000 0.040 11 84923746 intron variant C/A snv 0.55 0.700 1.000 1 2016 2016
dbSNP: rs1441937959
rs1441937959
EFL1
20 0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 0.700 0
dbSNP: rs11743810
rs11743810
EGR1
1 1.000 0.040 5 138466715 intron variant C/T snv 0.50 0.48 0.010 1.000 1 2016 2016
dbSNP: rs879255531
rs879255531
EHMT1
5 0.882 0.400 9 137728379 stop gained C/T snv 0.700 0
dbSNP: rs1064795104
rs1064795104
EXOC6B
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014