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: rs12333599
rs12333599
CYP3A5 ; ZSCAN25
1 7 99654556 intron variant G/C snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs4965426
rs4965426
IGF1R
1 15 98704812 intron variant G/A snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs10984466
rs10984466
HEMGN
1 9 97945710 upstream gene variant A/G snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs10820606
rs10820606 		2 9 96430637 intergenic variant A/C snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs58088508
rs58088508
SLC35D2
1 9 96324935 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs4148435
rs4148435
ABCC4
1 13 95247462 intron variant C/A snv 0.91 0.700 1.000 2 2016 2018
dbSNP: rs4148441
rs4148441
ABCC4
1 13 95245953 intron variant A/G snv 0.91 0.800 1.000 1 2011 2011
dbSNP: rs9524862
rs9524862
ABCC4
1 13 95242373 intron variant G/A snv 0.55 0.700 1.000 1 2016 2016
dbSNP: rs17580
rs17580
SERPINA1
14 0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs10431427
rs10431427
MRPL42
1 12 93489363 intron variant C/T snv 0.37 0.700 1.000 1 2018 2018
dbSNP: rs2068888
rs2068888 		5 10 93079885 downstream gene variant G/A snv 0.42 0.700 1.000 2 2016 2018
dbSNP: rs8006385
rs8006385
ITPK1
1 14 93034681 intron variant A/G snv 0.13 0.800 1.000 1 2011 2011
dbSNP: rs8037137
rs8037137
RCCD1
8 0.807 0.160 15 90963407 upstream gene variant T/C snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs290268
rs290268 		1 9 90790168 regulatory region variant A/G snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs183725
rs183725
USP7
1 16 8954178 intron variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs200572016
rs200572016
MEF2C-AS1
1 5 88924623 intron variant AG/- delins 2.8E-03 0.700 1.000 1 2019 2019
dbSNP: rs114694170
rs114694170
MEF2C ; MEF2C-AS1
5 1.000 0.040 5 88884379 non coding transcript exon variant T/C snv 3.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs61750929
rs61750929 		3 9 88880220 regulatory region variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2316806
rs2316806 		1 9 88861685 intergenic variant T/C snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs700585
rs700585
MEF2C
1 5 88856300 intron variant C/A;T snv 0.800 1.000 1 2011 2011
dbSNP: rs142550358
rs142550358 		5 9 88777772 intron variant CT/- delins 3.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs111350029
rs111350029
PIEZO1 ; LOC100289580
1 16 88730362 intron variant -/AGGCGG delins 0.700 1.000 1 2016 2016
dbSNP: rs10514301
rs10514301
LINC00461
2 5 88643836 intron variant C/T snv 0.16 0.700 1.000 1 2016 2016
dbSNP: rs59865663
rs59865663
ZFPM1
1 16 88491904 intron variant G/A snv 0.16 0.700 1.000 1 2016 2016
dbSNP: rs28634651
rs28634651
ZFPM1
1 16 88486790 intron variant T/A;C;G snv 0.700 1.000 1 2018 2018