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: rs2820436
rs2820436
LYPLAL1-AS1
4 0.882 0.040 1 219467338 intergenic variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs2820443
rs2820443 		8 0.882 0.120 1 219580167 regulatory region variant T/C snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs2847212
rs2847212 		2 0.925 0.040 11 60568491 intergenic variant C/T snv 0.78 0.700 1.000 1 2018 2018
dbSNP: rs2953013
rs2953013
NF1
2 0.925 0.040 17 31169325 intron variant C/A snv 0.72 0.700 1.000 1 2019 2019
dbSNP: rs34195470
rs34195470
WWP2
1 1.000 0.040 16 69921787 intron variant A/G snv 0.46 0.700 1.000 1 2018 2018
dbSNP: rs35087650
rs35087650
SMG6
1 1.000 0.040 17 2155056 intron variant T/-;TT;TTT;TTTT;TTTTT delins 0.700 1.000 1 2019 2019
dbSNP: rs35611929
rs35611929
AP3B1
1 1.000 0.040 5 78172000 intron variant G/A snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs35912128
rs35912128
USP8
1 1.000 0.040 15 50438935 intron variant T/-;TT;TTT delins 0.700 1.000 1 2019 2019
dbSNP: rs3774354
rs3774354
ITIH1
3 0.882 0.080 3 52783659 intron variant G/A snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs3821262
rs3821262
TGFA
2 0.925 0.040 2 70493874 intron variant A/G snv 0.48 0.700 1.000 1 2019 2019
dbSNP: rs3884606
rs3884606
FGF18
2 0.925 0.040 5 171444070 intron variant G/A snv 0.54 0.700 1.000 1 2019 2019
dbSNP: rs4144502
rs4144502
CRADD
2 0.925 0.040 12 93787552 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4630744
rs4630744
LTBP1
2 0.925 0.040 2 33236308 intron variant A/G snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs4775006
rs4775006 		1 1.000 0.040 15 57923529 regulatory region variant C/A snv 0.49 0.700 1.000 1 2019 2019
dbSNP: rs4920343
rs4920343 		1 1.000 0.040 1 18775271 intergenic variant G/A snv 0.29 0.700 1.000 1 2017 2017
dbSNP: rs4979341
rs4979341 		2 0.925 0.040 9 114143263 intergenic variant C/T snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs532464664
rs532464664
CHADL
3 0.882 0.040 22 41238083 frameshift variant -/GCCCGCGC delins 4.8E-03 1.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs541612392
rs541612392
NT5DC2
1 1.000 0.040 3 52533952 intron variant A/G snv 0.700 1.000 1 2018 2018
dbSNP: rs547181612
rs547181612
UQCC1
2 0.925 0.040 20 35371345 intron variant T/-;TT;TTT;TTTT delins 0.700 1.000 1 2019 2019
dbSNP: rs56116847
rs56116847
SBNO1
1 1.000 0.040 12 123350686 intron variant G/A snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs62406718
rs62406718
BTNL8
2 0.925 0.040 5 180923167 intron variant A/C;G snv 0.74 0.700 1.000 1 2018 2018
dbSNP: rs6499244
rs6499244
NFAT5
2 1.000 0.040 16 69701368 3 prime UTR variant T/A snv 0.64 0.700 1.000 1 2019 2019
dbSNP: rs6516886
rs6516886
RWDD2B
2 0.925 0.040 21 29021343 upstream gene variant A/T snv 0.66 0.700 1.000 1 2018 2018
dbSNP: rs6976
rs6976
GNL3 ; GLT8D1
4 0.851 0.080 3 52694788 3 prime UTR variant C/T snv 0.38 0.33 0.700 1.000 1 2019 2019
dbSNP: rs75621460
rs75621460
TGFB1
3 0.882 0.040 19 41327879 intron variant G/A snv 2.0E-02 0.700 1.000 1 2019 2019