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: rs1550094
rs1550094
PRSS56
1 1.000 0.040 2 232520686 missense variant G/A snv 0.72 0.64 0.710 1.000 2 2016 2016
dbSNP: rs524952
rs524952 		6 0.827 0.040 15 34713685 intergenic variant T/A snv 0.50 0.710 1.000 2 2016 2019
dbSNP: rs7744813
rs7744813
KCNQ5
3 0.925 0.040 6 72933566 intron variant C/A snv 0.66 0.710 1.000 2 2016 2017
dbSNP: rs1064795104
rs1064795104
EXOC6B
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
dbSNP: rs10089517
rs10089517 		2 0.925 0.040 8 59266162 intergenic variant C/A snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs10113215
rs10113215 		1 1.000 0.040 8 59219635 intergenic variant A/G snv 0.33 0.700 1.000 1 2014 2014
dbSNP: rs10500355
rs10500355
RBFOX1
3 0.925 0.040 16 7409346 intron variant T/A snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs10511652
rs10511652
ADAMTSL1 ; LOC107986990
1 1.000 0.040 9 18362867 intron variant A/G snv 0.54 0.700 1.000 1 2016 2016
dbSNP: rs10512441
rs10512441 		1 1.000 0.040 17 32912627 regulatory region variant C/T snv 0.21 0.700 1.000 1 2016 2016
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: rs10824518
rs10824518
KCNMA1
3 0.882 0.040 10 77303784 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs10887265
rs10887265
RGR
1 1.000 0.040 10 84255817 intron variant G/C snv 0.48 0.700 1.000 1 2016 2016
dbSNP: rs10892173
rs10892173
FXYD2 ; DSCAML1 ; LOC107984394
1 1.000 0.040 11 117801846 3 prime UTR variant C/T snv 0.38 0.700 1.000 1 2016 2016
dbSNP: rs11145488
rs11145488
TJP2
1 1.000 0.040 9 69156023 intron variant G/A snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs11606250
rs11606250
LRRC4C
1 1.000 0.040 11 40127750 intron variant G/A snv 0.17 0.700 1.000 1 2016 2016
dbSNP: rs11658305
rs11658305 		1 1.000 0.040 17 7526004 intergenic variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12193446
rs12193446
LAMA2 ; LOC102723409
3 0.925 0.040 6 129498893 intron variant A/G snv 6.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs12965607
rs12965607
MYO5B
1 1.000 0.040 18 49864655 intron variant T/G snv 1.0E-01 0.700 1.000 1 2016 2016
dbSNP: rs13129838
rs13129838
OR7E94P ; LINC00989 ; LOC107986294
1 1.000 0.040 4 79587634 non coding transcript exon variant T/C snv 0.66 0.700 1.000 1 2016 2016
dbSNP: rs1327062642
rs1327062642
TULP1
11 0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs13380104
rs13380104
RASGRF1
1 1.000 0.040 15 79086479 intron variant C/T snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs1370156
rs1370156 		1 1.000 0.040 15 34692682 intergenic variant G/C snv 0.67 0.700 1.000 1 2014 2014
dbSNP: rs1550870
rs1550870
PTPN5
1 1.000 0.040 11 18729494 synonymous variant C/T snv 0.39 0.41 0.700 1.000 1 2016 2016
dbSNP: rs1555639076
rs1555639076
BPTF
16 0.790 0.400 17 67893677 splice donor variant A/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1556867
rs1556867 		1 1.000 0.040 1 164244449 intergenic variant C/T snv 0.24 0.700 1.000 1 2016 2016