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: rs1057518802
rs1057518802
SLC19A1 ; COL18A1
4 0.882 0.080 21 45509554 stop gained C/T snv 0.700 0
dbSNP: rs1064796765
rs1064796765
DYNC1H1
19 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
dbSNP: rs1303044966
rs1303044966
ABHD12
4 0.882 0.160 20 25339294 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1339616347
rs1339616347
WRN
6 0.925 0.120 8 31068328 splice donor variant G/T snv 0.700 0
dbSNP: rs142285818
rs142285818
RHO
11 0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04 0.700 0
dbSNP: rs1423415130
rs1423415130
XYLT2
6 0.851 0.120 17 50360241 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs1554781700
rs1554781700
COL5A1
12 0.851 0.240 9 134701287 missense variant G/T snv 0.700 0
dbSNP: rs1568480054
rs1568480054
LIM2
2 0.925 0.200 19 51380577 missense variant G/A snv 0.700 0
dbSNP: rs727502810
rs727502810
TUB ; RIC3
8 0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins 0.700 0
dbSNP: rs765919785
rs765919785
COL18A1 ; MIR6815
4 0.882 0.080 21 45477409 splice acceptor variant A/G snv 8.2E-06 2.8E-05 0.700 0
dbSNP: rs863225045
rs863225045
ALDH18A1
15 0.790 0.360 10 95637327 missense variant C/A;T snv 0.700 0
dbSNP: rs1135401778
rs1135401778
BPTF
20 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
dbSNP: rs587783070
rs587783070
IARS2
3 0.925 0.040 1 220143109 missense variant C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1048661
rs1048661
LOXL1 ; LOXL1-AS1
14 0.732 0.320 15 73927205 missense variant G/T snv 0.33 0.28 0.010 1.000 1 2008 2008
dbSNP: rs104893685
rs104893685
BFSP2 ; BFSP2-AS1
3 0.882 0.040 3 133450432 missense variant C/A;T snv 4.0E-06; 2.0E-05 0.010 1.000 1 2000 2000
dbSNP: rs1050828
rs1050828
G6PD
15 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs1050829
rs1050829
G6PD
5 0.827 0.160 X 154535277 missense variant T/A;C snv 1.7E-04; 2.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs1063147
rs1063147
BLM
6 0.807 0.120 15 90811275 synonymous variant C/T snv 0.15 0.010 1.000 1 2013 2013
dbSNP: rs11129182
rs11129182
RARB
2 0.925 0.120 3 25129806 intron variant T/C snv 0.82 0.010 1.000 1 2010 2010
dbSNP: rs1114167307
rs1114167307
GJA3
4 0.851 0.200 13 20143233 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs11260867
rs11260867 		1 1.000 0.040 1 16115233 regulatory region variant C/G snv 0.13 0.010 1.000 1 2012 2012
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
22 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.010 < 0.001 1 2015 2015
dbSNP: rs11574311
rs11574311
WRN
8 0.776 0.160 8 31119144 intron variant T/C snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs1163215981
rs1163215981
GZMM
1 1.000 0.040 19 544073 start lost T/C snv 2.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs118203965
rs118203965
CHMP4B
2 0.925 0.040 20 33850969 missense variant A/T snv 0.010 1.000 1 2020 2020