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: rs58548501
rs58548501 		4 4 54635119 intergenic variant -/A;ATTTTTTTTTA ins 0.43 0.700 1.000 1 2016 2016
dbSNP: rs145013566
rs145013566
PNKD
5 2 218297998 intron variant -/C ins 0.700 1.000 1 2016 2016
dbSNP: rs397933924
rs397933924 		5 10 97314229 upstream gene variant -/CAGGTTCAAGCGA ins 0.700 1.000 1 2016 2016
dbSNP: rs3840870
rs3840870
COL1A1
13 17 50184820 3 prime UTR variant -/CTTG delins 0.700 1.000 1 2019 2019
dbSNP: rs11428934
rs11428934
CA11 ; SEC1P
4 19 48640988 intron variant -/G ins 0.700 1.000 1 2016 2016
dbSNP: rs66538782
rs66538782
PIK3R3 ; P3R3URF-PIK3R3
2 1 46130565 intron variant A/-;AA;AAA delins 0.700 1.000 1 2016 2016
dbSNP: rs11405616
rs11405616
NDFIP1
4 5 142130697 intron variant A/-;AA;AAA;AAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs10171849
rs10171849
IL1RN
1 2 113108257 intron variant A/C snv 0.35 0.700 1.000 1 2016 2016
dbSNP: rs11654074
rs11654074
VMP1
5 17 59748211 intron variant A/C snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs12440045
rs12440045 		6 0.925 0.080 15 41490486 upstream gene variant A/C snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs12453732
rs12453732
MED24
1 17 40021586 intron variant A/C snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs12606438
rs12606438
LINC01478
1 18 44461098 intron variant A/C snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs272594
rs272594 		1 8 80557885 upstream gene variant A/C snv 0.22 0.800 1.000 1 2011 2011
dbSNP: rs56232812
rs56232812 		4 1 27859995 intergenic variant A/C snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs112505971
rs112505971
ANKRD26
13 10 27068541 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs12593998
rs12593998
SPPL2A
2 15 50766432 upstream gene variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs12905525
rs12905525
SPPL2A
1 15 50763625 intron variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs10075801
rs10075801
SLC22A4 ; MIR3936HG
5 5 132341949 intron variant A/G snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs11137087
rs11137087 		2 8 7048518 intergenic variant A/G snv 0.60 0.700 1.000 1 2016 2016
dbSNP: rs11725704
rs11725704 		5 4 74094279 downstream gene variant A/G snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs12469306
rs12469306
LY75 ; LY75-CD302
1 2 159848974 intron variant A/G snv 0.87 0.700 1.000 1 2018 2018
dbSNP: rs12752838
rs12752838 		4 1 8853597 upstream gene variant A/G snv 0.54 0.700 1.000 1 2016 2016
dbSNP: rs13331259
rs13331259
FAM234A
14 16 249924 intron variant A/G snv 3.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs1352846
rs1352846
GC
4 4 71752058 intron variant A/G snv 0.22 0.700 1.000 1 2016 2016
dbSNP: rs143699489
rs143699489 		4 3 141208279 intergenic variant A/G snv 0.22 0.700 1.000 1 2016 2016