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: rs9609429
rs9609429
AP1B1P1 ; LOC105373000
1 22 32121444 upstream gene variant T/C snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs9563529
rs9563529 		1 13 57742503 intergenic variant G/T snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs956006
rs956006
TLN2
2 15 62516340 intron variant C/T snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs9549297
rs9549297
TPTE2P5
1 13 40823346 intron variant A/G snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs9547996
rs9547996
TRPC4
1 13 37646024 intron variant T/G snv 0.21 0.700 1.000 1 2017 2017
dbSNP: rs954767
rs954767 		2 5 3705936 intergenic variant A/C snv 0.27 0.700 1.000 1 2018 2018
dbSNP: rs953492
rs953492
SDCCAG8
2 1 243307890 splice region variant A/G snv 0.49 0.700 1.000 1 2017 2017
dbSNP: rs9479509
rs9479509
RGS17
2 6 153106130 intron variant G/A snv 0.32 0.700 1.000 1 2018 2018
dbSNP: rs9472135
rs9472135
LOC107986598
9 0.925 0.120 6 43842065 intron variant T/A;C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs9467715
rs9467715 		1 6 26341073 regulatory region variant T/C;G snv 0.24 0.700 1.000 1 2017 2017
dbSNP: rs9456648
rs9456648 		1 6 161291203 intergenic variant C/T snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs9431431
rs9431431 		1 1 221185454 intergenic variant G/A snv 0.31 0.700 1.000 1 2018 2018
dbSNP: rs943037
rs943037
CNNM2
2 10 103076162 synonymous variant C/T snv 0.12 8.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs941454
rs941454
SMCR8
1 17 18327066 3 prime UTR variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs9388537
rs9388537
LOC105377991
2 6 126877485 non coding transcript exon variant A/G snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs9385284
rs9385284 		3 6 123078960 intergenic variant A/G snv 0.24 0.700 1.000 1 2017 2017
dbSNP: rs9375463
rs9375463 		3 6 126845743 intron variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs9372498
rs9372498
SLC35F1
1 6 118251323 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs937213
rs937213
EIF2AK4
3 1.000 0.080 15 40029923 intron variant T/C snv 0.31 0.700 1.000 1 2017 2017
dbSNP: rs936226
rs936226 		3 15 74776941 intergenic variant C/T snv 0.69 0.700 1.000 1 2016 2016
dbSNP: rs9348895
rs9348895
LOC105374928
1 6 11495815 intron variant A/C snv 0.54 0.700 1.000 1 2018 2018
dbSNP: rs932764
rs932764
PLCE1
6 10 94136183 intron variant A/G snv 0.38 0.700 1.000 3 2011 2017
dbSNP: rs9318552
rs9318552
OBI1-AS1
2 13 78451652 intron variant C/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs9306160
rs9306160
RRP1B
5 0.925 0.080 21 43687681 missense variant T/C snv 0.69 0.73 0.700 1.000 1 2016 2016
dbSNP: rs9303509
rs9303509
PRKCA
3 17 66534769 intron variant C/A;G snv 0.700 1.000 1 2018 2018