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: rs10870273
rs10870273
STK32C
1 1.000 0.080 10 132232632 intron variant A/G snv 0.72 0.700 1.000 1 2019 2019
dbSNP: rs13057743
rs13057743
TBC1D22A
1 1.000 0.080 22 47110264 intron variant G/A snv 0.25 0.700 1.000 1 2019 2019
dbSNP: rs210967
rs210967
ROS1
1 1.000 0.080 6 117303386 intron variant C/G snv 0.62 0.700 1.000 1 2019 2019
dbSNP: rs2850542
rs2850542
ME2
1 1.000 0.080 18 50877190 upstream gene variant G/T snv 0.54 0.700 1.000 1 2019 2019
dbSNP: rs3870369
rs3870369 		2 1.000 0.080 6 153261855 intron variant T/G snv 0.65 0.700 1.000 1 2019 2019
dbSNP: rs11621270
rs11621270
IFT43
1 1.000 0.080 14 76064583 intron variant A/G snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs139064549
rs139064549
COL11A1
1 1.000 0.080 1 102888579 missense variant G/C snv 8.6E-03 8.8E-03 0.010 1.000 1 2016 2016
dbSNP: rs1799889
rs1799889
SERPINE1
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs1926447
rs1926447
CPB2 ; CPB2-AS1
11 0.807 0.440 13 46055809 missense variant A/G snv 0.74 0.77 0.010 1.000 1 2015 2015
dbSNP: rs3742264
rs3742264
CPB2 ; CPB2-AS1
17 0.742 0.400 13 46073959 missense variant C/T snv 0.31 0.35 0.010 1.000 1 2015 2015
dbSNP: rs5844572
rs5844572
MIF ; MIF-AS1
11 0.752 0.360 22 23893562 intron variant -/ATTC delins 0.010 1.000 1 2016 2016
dbSNP: rs755622
rs755622
MIF ; MIF-AS1
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs9309464
rs9309464
EXOC6B
1 1.000 0.080 2 72306834 intron variant A/G snv 0.38 0.010 1.000 1 2016 2016