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: rs113993956
rs113993956
MYH14
3 1.000 19 50268255 missense variant G/A;T snv 6.2E-04 0.010 1.000 1 2019 2019
dbSNP: rs11974610
rs11974610
GJC3
2 7 99930354 intron variant G/A snv 0.30 0.010 1.000 1 2011 2011
dbSNP: rs12521798
rs12521798
LOC105379048
2 5 79890115 intergenic variant T/C snv 0.21 0.010 1.000 1 2018 2018
dbSNP: rs12568757
rs12568757
CTSS
2 1 150757317 intron variant G/A snv 0.42 0.010 1.000 1 2011 2011
dbSNP: rs1279417718
rs1279417718
YARS1
2 1 32806493 missense variant G/T snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs1330512770
rs1330512770
EGFR
2 7 55161592 missense variant G/A snv 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs1413239
rs1413239
DPYD ; DPYD-AS1
2 1 97221459 intron variant C/T snv 0.41 0.010 1.000 1 2010 2010
dbSNP: rs143473232
rs143473232
HARS1
3 1.000 5 140679789 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1474642
rs1474642
PSMB1
2 6 170543473 intron variant A/G snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs17748074
rs17748074
DCC
2 18 52420925 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2242578
rs2242578
GLI1
2 12 57459370 non coding transcript exon variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs3750898
rs3750898
DCLRE1A ; LOC107984271
2 10 113850156 missense variant C/A;G snv 4.0E-06; 0.77 0.010 1.000 1 2018 2018
dbSNP: rs3887412
rs3887412
ABCC1
2 16 16081173 intron variant A/T snv 0.25 0.010 1.000 1 2010 2010
dbSNP: rs492338
rs492338
ABCG1
2 21 42281867 intron variant A/G snv 0.52 0.010 1.000 1 2014 2014
dbSNP: rs6552496
rs6552496 		2 4 181371930 intergenic variant C/A snv 0.52 0.010 1.000 1 2018 2018
dbSNP: rs774909609
rs774909609
DNAJB5 ; DNAJB5-DT
2 9 34990673 missense variant C/T snv 1.2E-04 1.3E-04 0.700 1.000 1 2015 2015
dbSNP: rs80356711
rs80356711
PRNP
4 1.000 20 4699698 stop gained C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs8060632
rs8060632
CDH13
2 16 83591958 intron variant A/C snv 0.68 0.010 1.000 1 2018 2018
dbSNP: rs916758
rs916758
DYNC1I1
2 7 96096624 intron variant A/G snv 0.20 0.010 1.000 1 2011 2011
dbSNP: rs1563518388
rs1563518388
PMP2
2 1.000 8 81444908 missense variant A/G snv 0.700 0
dbSNP: rs377504835
rs377504835
COX6A1
1 12 120438230 splice donor variant G/A;C snv 4.0E-06; 4.9E-05 0.700 0
dbSNP: rs777219451
rs777219451
CHRNG
1 2 232540617 missense variant C/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs28937569
rs28937569
HSPB1
3 1.000 0.040 7 76304100 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs587783070
rs587783070
IARS2
3 0.925 0.040 1 220143109 missense variant C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs794728588
rs794728588
LMNA
2 1.000 0.040 1 156115262 missense variant A/T snv 0.700 0