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: rs2284746
rs2284746
MFAP2
6 1 16980180 intron variant C/A;G snv 0.700 1.000 6 2010 2019
dbSNP: rs11205277
rs11205277 		5 1.000 0.120 1 149920979 upstream gene variant A/C;G;T snv 0.700 1.000 5 2008 2019
dbSNP: rs11205303
rs11205303
MTMR11
9 0.882 0.120 1 149934520 missense variant T/C snv 0.33 0.29 0.700 1.000 4 2013 2019
dbSNP: rs9428104
rs9428104 		2 1 118312964 intergenic variant A/G;T snv 0.700 1.000 4 2010 2019
dbSNP: rs1926872
rs1926872 		2 1 184049341 upstream gene variant T/C snv 0.29 0.700 1.000 3 2015 2019
dbSNP: rs3738814
rs3738814
ATP13A2
3 1 17005181 intron variant A/G snv 0.52 0.700 1.000 3 2010 2019
dbSNP: rs3814333
rs3814333
COLGALT2
3 1 184037985 upstream gene variant C/T snv 0.29 0.700 1.000 3 2013 2019
dbSNP: rs6684205
rs6684205
TGFB2
3 1 218436360 intron variant A/G;T snv 0.700 1.000 3 2010 2019
dbSNP: rs7513464
rs7513464 		1 1 118307139 regulatory region variant G/C snv 0.30 0.700 1.000 3 2015 2019
dbSNP: rs1046934
rs1046934
TSEN15
4 1.000 0.080 1 184054395 missense variant A/C;G;T snv 0.34; 4.0E-06 0.700 1.000 2 2010 2019
dbSNP: rs11588850
rs11588850
SNAP47
1 1 227739541 intron variant A/G snv 0.11 0.700 1.000 2 2017 2019
dbSNP: rs12075079
rs12075079
DNM3
2 1 172250855 intron variant A/G snv 0.16 0.700 1.000 2 2013 2019
dbSNP: rs12410416
rs12410416
DNM3
1 1 172224680 intron variant T/C snv 0.17 0.700 1.000 2 2015 2019
dbSNP: rs12735613
rs12735613 		2 1 118341350 intergenic variant G/A snv 0.22 0.700 1.000 2 2008 2019
dbSNP: rs1325598
rs1325598
PAPPA2
2 1 176823113 intron variant A/G snv 0.62 0.700 1.000 2 2010 2015
dbSNP: rs17038182
rs17038182 		2 1 118325782 intergenic variant G/C snv 0.25 0.700 1.000 2 2009 2019
dbSNP: rs17391694
rs17391694 		6 0.882 0.120 1 78157942 regulatory region variant C/T snv 7.8E-02 0.700 1.000 2 2010 2014
dbSNP: rs1890995
rs1890995
TGFB2
3 1 218431336 intron variant G/A snv 0.33 0.700 1.000 2 2015 2019
dbSNP: rs2154319
rs2154319 		2 1 41280098 intron variant T/C snv 0.15 0.700 1.000 2 2010 2017
dbSNP: rs2274432
rs2274432
TSEN15
5 1 184051811 missense variant G/A snv 0.33 0.28 0.700 1.000 2 2008 2019
dbSNP: rs4472734
rs4472734
PTPN14
1 1 214444842 intron variant C/T snv 0.42 0.700 1.000 2 2015 2019
dbSNP: rs564914
rs564914 		1 1 47449561 intergenic variant A/C;T snv 0.700 1.000 2 2019 2019
dbSNP: rs7534091
rs7534091 		3 1 118321993 intergenic variant A/G snv 0.23 0.700 1.000 2 2013 2019
dbSNP: rs991967
rs991967
TGFB2 ; TGFB2-OT1
2 1 218442109 3 prime UTR variant A/C snv 0.37 0.700 1.000 2 2014 2019
dbSNP: rs1006224
rs1006224
C1orf21
1 1 184572468 intron variant G/A snv 0.40 0.700 1.000 1 2019 2019