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: rs1064796765
rs1064796765
DYNC1H1
19 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
dbSNP: rs8007903
rs8007903
KLC1
2 0.925 0.120 14 103671306 intron variant A/G snv 0.27 0.010 1.000 1 2010 2010
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: rs777441702
rs777441702
GCNT2
2 0.925 0.080 6 10621360 missense variant G/A snv 1.2E-05 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs143810759
rs143810759
LIG4
6 0.851 0.280 13 108210371 missense variant C/T snv 1.6E-04 2.1E-04 0.010 1.000 1 2011 2011
dbSNP: rs370803064
rs370803064
CRYAB
3 0.925 0.200 11 111908781 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs141638421
rs141638421
CRYAB
4 0.882 0.080 11 111908822 missense variant C/T snv 7.2E-05 4.9E-05 0.010 1.000 1 2017 2017
dbSNP: rs150516929
rs150516929
CRYAB
8 0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04 0.020 1.000 2 2010 2017
dbSNP: rs534473091
rs534473091
CRYAB
3 0.882 0.040 11 111908925 missense variant G/A snv 2.0E-05 4.9E-05 0.010 1.000 1 2010 2010
dbSNP: rs104894201
rs104894201
CRYAB
12 0.763 0.280 11 111908934 missense variant T/C snv 0.040 1.000 4 2011 2019
dbSNP: rs387907339
rs387907339
CRYAB
4 0.882 0.280 11 111908967 missense variant C/A;G snv 0.010 1.000 1 2020 2020
dbSNP: rs139750142
rs139750142
CRYAB
2 0.925 0.200 11 111910446 missense variant G/A;T snv 9.5E-05; 4.0E-06 6.3E-05 0.010 1.000 1 2020 2020
dbSNP: rs387907338
rs387907338
CRYAB ; HSPB2 ; HSPB2-C11orf52
5 0.827 0.200 11 111911559 missense variant G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs375933774
rs375933774
CRYAB ; HSPB2 ; HSPB2-C11orf52
2 0.925 0.040 11 111911691 missense variant G/A snv 2.3E-05 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs782809283
rs782809283
CRYAB ; HSPB2 ; HSPB2-C11orf52
1 1.000 0.040 11 111911693 missense variant C/T snv 1.8E-05 4.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs781902168
rs781902168
CRYAB ; HSPB2 ; HSPB2-C11orf52
3 0.882 0.040 11 111911694 missense variant G/A;C snv 3.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs375713569
rs375713569
SDS
2 0.925 0.040 12 113398748 missense variant G/A;C snv 3.6E-05; 1.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs777547119
rs777547119
HGD
1 1.000 0.040 3 120675839 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs778791846
rs778791846
SMO
4 0.851 0.200 7 129210515 missense variant C/T snv 2.0E-05 0.010 1.000 1 2019 2019
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: rs377423839
rs377423839
BFSP2
2 0.925 0.080 3 133400418 missense variant G/A snv 5.2E-05 1.4E-05 0.010 1.000 1 2014 2014
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: rs930526408
rs930526408
BFSP2 ; BFSP2-AS1
2 0.925 0.040 3 133472412 missense variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1554781700
rs1554781700
COL5A1
12 0.851 0.240 9 134701287 missense variant G/T snv 0.700 0
dbSNP: rs6596473
rs6596473
SLC23A1
7 0.807 0.120 5 139374887 intron variant G/C;T snv 0.010 < 0.001 1 2019 2019