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: rs35295665
rs35295665
CASZ1
2 1 10737371 intron variant -/C delins 0.700 1.000 1 2018 2018
dbSNP: rs201445483
rs201445483
SMC6
2 2 17708820 intron variant -/GT delins 7.3E-05 0.700 1.000 1 2019 2019
dbSNP: rs11731886
rs11731886
LOC105377506
3 4 155738667 downstream gene variant A/C snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs12292796
rs12292796 		1 11 39404549 intergenic variant A/C snv 0.10 0.700 1.000 1 2013 2013
dbSNP: rs1265564
rs1265564
CUX2
4 1.000 0.120 12 111270654 non coding transcript exon variant A/C snv 0.30 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: rs13405173
rs13405173
PDE1A
3 2 182449087 intron variant A/C snv 8.8E-03 0.700 1.000 1 2018 2018
dbSNP: rs1525889
rs1525889
TF
1 3 133771189 intron variant A/C snv 0.29 0.700 1.000 1 2011 2011
dbSNP: rs16853958
rs16853958
LOC105371692
2 1 204559216 downstream gene variant A/C snv 0.59 0.700 1.000 1 2018 2018
dbSNP: rs17144687
rs17144687 		1 5 118824240 intergenic variant A/C snv 4.5E-02 0.700 1.000 1 2013 2013
dbSNP: rs259983
rs259983
ZNF831
2 20 59160402 5 prime UTR variant A/C snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs35225200
rs35225200 		5 1.000 0.040 4 102225731 intergenic variant A/C snv 5.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs3743832
rs3743832
C16orf72
4 1.000 0.080 16 9120023 3 prime UTR variant A/C snv 0.55 0.700 1.000 1 2013 2013
dbSNP: rs459588
rs459588
ZNF831
2 20 59139712 intron variant A/C snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs4643
rs4643
PGM1
1 1 63659768 3 prime UTR variant A/C snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs483916
rs483916 		1 8 9936091 intergenic variant A/C snv 0.51 0.700 1.000 1 2018 2018
dbSNP: rs4854723
rs4854723 		1 3 133535414 regulatory region variant A/C snv 0.52 0.700 1.000 1 2011 2011
dbSNP: rs6439431
rs6439431
TF ; INHCAP
1 3 133729265 intron variant A/C snv 0.38 0.700 1.000 1 2011 2011
dbSNP: rs7302816
rs7302816 		2 12 89556543 upstream gene variant A/C snv 0.27 0.700 1.000 1 2018 2018
dbSNP: rs8177213
rs8177213
TF ; INHCAP
1 3 133753383 intron variant A/C snv 0.25 0.700 1.000 1 2011 2011
dbSNP: rs9969423
rs9969423
FAM167A-AS1
2 8 11398066 intron variant A/C snv 0.39 0.700 1.000 1 2018 2018
dbSNP: rs1111336
rs1111336 		2 2 28435029 regulatory region variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1275984
rs1275984 		4 2 26688641 upstream gene variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs150844304
rs150844304
TP53BP1
4 15 43434427 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs2301054
rs2301054
PGM1
1 1 63641357 intron variant A/C;G snv 0.700 1.000 1 2011 2011