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: rs116840799
rs116840799
CAV3 ; SSUH2
2 1.000 0.040 3 8745599 missense variant C/G snv 0.010 1.000 1 2004 2004
dbSNP: rs116840805
rs116840805
CAV3 ; SSUH2
6 0.827 0.160 3 8745725 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs104894201
rs104894201
CRYAB
12 0.763 0.280 11 111908934 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs104894204
rs104894204
CSRP3
4 0.882 0.040 11 19188245 missense variant A/C snv 0.030 1.000 3 2004 2018
dbSNP: rs104894205
rs104894205
CSRP3
3 0.882 0.040 11 19188286 missense variant A/G snv 1.2E-05 5.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs267606753
rs267606753
CSRP3
1 1.000 0.040 11 19188253 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs750745310
rs750745310
DNM1L ; YARS2
3 0.882 0.040 12 32743390 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs786204291
rs786204291
DSG2
1 1.000 0.040 18 31522152 missense variant A/C;G snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs113188481
rs113188481
FHL2
1 1.000 0.040 2 105363443 missense variant C/T snv 3.5E-03 1.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs570903247
rs570903247
FHL2
1 1.000 0.040 2 105363414 missense variant C/A;T snv 1.1E-04; 2.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs727504674
rs727504674
FHL2
1 1.000 0.040 2 105363461 missense variant G/A snv 6.3E-05 1.3E-04 0.010 1.000 1 2014 2014
dbSNP: rs2303510
rs2303510
FHOD3
1 1.000 0.040 18 36744128 missense variant G/A snv 0.34 0.35 0.010 1.000 1 2013 2013
dbSNP: rs516514
rs516514
FHOD3
1 1.000 0.040 18 36681085 intron variant C/T snv 0.49 0.710 1.000 1 2013 2013
dbSNP: rs1057517105
rs1057517105
GAA
3 0.882 0.160 17 80112655 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs796051877
rs796051877
GAA
11 0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs397515871
rs397515871
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
1 1.000 0.040 X 101407834 missense variant A/T snv 0.010 1.000 1 2012 2012
dbSNP: rs199473684
rs199473684
GLA ; RPL36A-HNRNPH2
3 0.925 0.160 X 101399747 3 prime UTR variant C/T snv 0.700 1.000 13 2002 2017
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
10 0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06 0.700 1.000 11 1993 2017
dbSNP: rs727504348
rs727504348
GLA ; RPL36A-HNRNPH2
2 0.925 0.160 X 101397982 missense variant C/T snv 0.700 1.000 3 1995 2007
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
11 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2016 2016
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
8 0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04 0.010 1.000 1 2015 2015
dbSNP: rs398123226
rs398123226
GLA ; RPL36A-HNRNPH2
3 0.882 0.160 X 101398403 missense variant G/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1316189390
rs1316189390
HCN4 ; LOC105370890
2 1.000 0.040 15 73343594 missense variant T/C snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs779782995
rs779782995
HDAC9
2 0.925 0.040 7 18590438 missense variant A/G snv 1.7E-05 0.010 1.000 1 2014 2014
dbSNP: rs182798226
rs182798226
HLA-B ; HLA-C
2 0.925 0.080 6 31271285 missense variant C/G;T snv 0.010 1.000 1 2014 2014