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: rs12143832
rs12143832 		1 1 21378943 regulatory region variant T/C snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs2758603
rs2758603
PMF1 ; PMF1-BGLAP
2 1 156229203 intron variant T/C snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs13008689
rs13008689
LINC00299
1 2 8390126 intron variant G/A snv 0.35 0.800 1.000 1 2010 2010
dbSNP: rs1356888
rs1356888
NRXN1
1 2 50288880 intron variant T/A;C snv 0.800 1.000 1 2010 2010
dbSNP: rs432203
rs432203
TGFA
1 2 70537556 intron variant C/A snv 0.58 0.800 1.000 1 2010 2010
dbSNP: rs6740706
rs6740706
LRRFIP1
1 2 237719866 intron variant C/T snv 0.86 0.700 1.000 1 2018 2018
dbSNP: rs10934524
rs10934524 		1 3 96431316 intergenic variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1425609
rs1425609 		1 3 162964207 intergenic variant G/A snv 0.37 0.700 1.000 1 2011 2011
dbSNP: rs3830412
rs3830412
KALRN
1 3 124678475 non coding transcript exon variant T/- delins 0.16 0.700 1.000 1 2019 2019
dbSNP: rs9841144
rs9841144
CADM2
1 3 85482049 intron variant A/T snv 0.17 0.700 1.000 1 2015 2015
dbSNP: rs9876781
rs9876781
CCDC51 ; ATRIP ; ATRIP-TREX1
1 3 48445934 intron variant A/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs13118159
rs13118159
UVSSA
1 4 1371339 intron variant T/C snv 0.55 0.800 1.000 1 2010 2010
dbSNP: rs1487614
rs1487614 		1 4 42267463 non coding transcript exon variant T/C snv 0.65 0.700 1.000 1 2016 2016
dbSNP: rs2273
rs2273
SDAD1
1 4 75968235 intron variant C/T snv 0.33 0.800 1.000 1 2010 2010
dbSNP: rs2704588
rs2704588
FAM13A ; LOC105377327
1 4 88928621 intron variant T/C snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs6813479
rs6813479 		1 4 136739228 intergenic variant T/A;C snv 0.800 1.000 1 2010 2010
dbSNP: rs7676745
rs7676745
GPR78
1 4 8563820 intron variant G/A snv 5.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs138762279
rs138762279 		1 5 174283195 intergenic variant T/- del 0.34 0.700 1.000 1 2019 2019
dbSNP: rs2149954
rs2149954
LINC02227
5 0.882 0.080 5 158393594 intron variant C/T snv 0.37 0.700 1.000 1 2014 2014
dbSNP: rs1262476
rs1262476
LOC105377992
2 6 126665850 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1416280
rs1416280 		1 6 102438768 intergenic variant C/G snv 0.35 0.700 1.000 1 2015 2015
dbSNP: rs6568433
rs6568433
CRYBG1
1 6 106381662 intron variant T/C snv 0.48 0.800 1.000 1 2010 2010
dbSNP: rs6915183
rs6915183 		1 6 166292681 intergenic variant A/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs2069837
rs2069837
IL6 ; IL6-AS1
18 0.724 0.520 7 22728408 intron variant A/C;G snv 0.700 1.000 2 2016 2019
dbSNP: rs10256972
rs10256972
C7orf50
1 7 999367 intron variant A/C snv 0.62 0.800 1.000 1 2010 2010