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: rs567058829
rs567058829
TNN
1 1 175142624 intron variant -/A ins 0.700 1.000 1 2017 2017
dbSNP: rs5883070
rs5883070 		5 7 27240226 intron variant -/AAAACA;AACA delins 0.91 0.700 1.000 1 2018 2018
dbSNP: rs112925537
rs112925537
INO80
2 15 41042015 intron variant -/C ins 0.700 1.000 1 2017 2017
dbSNP: rs10628234
rs10628234 		2 15 74918801 downstream gene variant -/CA delins 0.700 1.000 1 2018 2018
dbSNP: rs146669915
rs146669915
SOX6
1 11 16269264 intron variant -/CTGT delins 0.700 1.000 1 2019 2019
dbSNP: rs138475089
rs138475089 		1 7 100899019 upstream gene variant -/TA delins 0.700 1.000 1 2019 2019
dbSNP: rs35123175
rs35123175
HSF2BP
1 21 43586730 intron variant A/- delins 6.0E-02 0.700 1.000 1 2017 2017
dbSNP: rs17030613
rs17030613
CAPZA1
7 1 112648185 intron variant A/C snv 0.19 0.700 1.000 3 2011 2018
dbSNP: rs6495122
rs6495122 		6 1.000 0.040 15 74833304 downstream gene variant A/C snv 0.44 0.700 1.000 3 2009 2018
dbSNP: rs7989823
rs7989823
COL4A1 ; COL4A2
1 13 110307296 5 prime UTR variant A/C snv 0.63 0.700 1.000 2 2017 2017
dbSNP: rs8098380
rs8098380
YES1
4 18 721563 downstream gene variant A/C snv 0.33 0.700 1.000 2 2018 2018
dbSNP: rs10198275
rs10198275
ADCY3
1 2 24907673 intron variant A/C snv 0.53 0.700 1.000 1 2017 2017
dbSNP: rs11681462
rs11681462 		1 2 42125427 intergenic variant A/C snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs11731886
rs11731886
LOC105377506
3 4 155738667 downstream gene variant A/C snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs11931572
rs11931572 		1 4 30084482 intergenic variant A/C snv 1.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs1215469
rs1215469
LOC105370275
1 13 80133273 intron variant A/C snv 0.82 0.700 1.000 1 2018 2018
dbSNP: rs12741980
rs12741980 		2 1 11879536 non coding transcript exon variant A/C snv 5.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs12829468
rs12829468
LINC02398
2 12 20043911 intron variant A/C snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs12958173
rs12958173
LINC01478
2 18 44562012 intron variant A/C snv 0.70 0.700 1.000 1 2016 2016
dbSNP: rs13405173
rs13405173
PDE1A
3 2 182449087 intron variant A/C snv 8.8E-03 0.700 1.000 1 2018 2018
dbSNP: rs16853958
rs16853958
LOC105371692
2 1 204559216 downstream gene variant A/C snv 0.59 0.700 1.000 1 2018 2018
dbSNP: rs17046596
rs17046596
GPATCH2
1 1 217549107 intron variant A/C snv 0.22 0.700 1.000 1 2017 2017
dbSNP: rs1876487
rs1876487
SPR
2 1.000 0.040 2 72887223 upstream gene variant A/C snv 0.54 0.700 1.000 1 2017 2017
dbSNP: rs28663144
rs28663144
SVEP1
2 9 110436611 intron variant A/C snv 4.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs2980853
rs2980853 		16 0.851 0.120 8 125466108 upstream gene variant A/C snv 0.43 0.700 1.000 1 2016 2016