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: rs1057518802
rs1057518802
SLC19A1 ; COL18A1
4 0.882 0.080 21 45509554 stop gained C/T snv 0.700 0
dbSNP: rs1064796765
rs1064796765
DYNC1H1
19 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
dbSNP: rs1303044966
rs1303044966
ABHD12
4 0.882 0.160 20 25339294 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1339616347
rs1339616347
WRN
6 0.925 0.120 8 31068328 splice donor variant G/T snv 0.700 0
dbSNP: rs142285818
rs142285818
RHO
11 0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04 0.700 0
dbSNP: rs1423415130
rs1423415130
XYLT2
6 0.851 0.120 17 50360241 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs1554781700
rs1554781700
COL5A1
12 0.851 0.240 9 134701287 missense variant G/T snv 0.700 0
dbSNP: rs1568480054
rs1568480054
LIM2
2 0.925 0.200 19 51380577 missense variant G/A snv 0.700 0
dbSNP: rs727502810
rs727502810
TUB ; RIC3
8 0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins 0.700 0
dbSNP: rs765919785
rs765919785
COL18A1 ; MIR6815
4 0.882 0.080 21 45477409 splice acceptor variant A/G snv 8.2E-06 2.8E-05 0.700 0
dbSNP: rs863225045
rs863225045
ALDH18A1
15 0.790 0.360 10 95637327 missense variant C/A;T snv 0.700 0
dbSNP: rs104893685
rs104893685
BFSP2 ; BFSP2-AS1
3 0.882 0.040 3 133450432 missense variant C/A;T snv 4.0E-06; 2.0E-05 0.010 1.000 1 2000 2000
dbSNP: rs1215603718
rs1215603718
AQP1
3 0.882 0.080 7 30922217 missense variant G/A snv 4.2E-06 0.010 1.000 1 2000 2000
dbSNP: rs121917867
rs121917867
MIP
2 0.925 0.040 12 56453703 missense variant G/A;C snv 4.0E-05 0.010 1.000 1 2000 2000
dbSNP: rs121917869
rs121917869
MIP
4 0.851 0.080 12 56453715 missense variant T/C;G snv 0.010 1.000 1 2000 2000
dbSNP: rs80338829
rs80338829
MYH9
5 0.851 0.200 22 36295069 missense variant G/A snv 0.010 1.000 1 2001 2001
dbSNP: rs2070074
rs2070074
GALT
12 0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 0.010 1.000 1 2003 2003
dbSNP: rs1463326176
rs1463326176
CRYGD ; LOC100507443
4 0.851 0.200 2 208124291 frameshift variant TGGG/- del 0.060 1.000 6 2005 2019
dbSNP: rs28931605
rs28931605
CRYGD ; LOC100507443
6 0.807 0.200 2 208124294 missense variant G/A;T snv 4.2E-06; 1.3E-05 0.060 1.000 6 2005 2019
dbSNP: rs121909596
rs121909596
CRYGD ; LOC100507443
3 0.925 0.040 2 208124188 missense variant C/T snv 0.030 1.000 3 2005 2018
dbSNP: rs139609998
rs139609998
CRYGB ; LOC100507443
1 1.000 0.040 2 208145915 missense variant C/A;G snv 4.0E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs398122947
rs398122947
CRYAA ; LOC107987300
3 0.882 0.040 21 43170619 missense variant G/A snv 0.020 1.000 2 2006 2019
dbSNP: rs886055527
rs886055527
CRYGD ; LOC100507443
1 1.000 0.040 2 208121903 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs8702
rs8702
KLC1
5 0.851 0.160 14 103686015 3 prime UTR variant C/G snv 0.61 0.020 1.000 2 2007 2010
dbSNP: rs118203966
rs118203966
CHMP4B
3 0.882 0.040 20 33851064 missense variant G/A snv 0.010 1.000 1 2007 2007