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: rs10905928
rs10905928
CELF2
1 1.000 0.040 10 11300924 intron variant C/A snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs1190286
rs1190286
POPDC3 ; BVES-AS1
1 1.000 0.040 6 105163071 intron variant C/T snv 0.66 0.010 1.000 1 2012 2012
dbSNP: rs13402990
rs13402990
TIA1 ; C2orf42
1 1.000 0.040 2 70231632 intron variant A/T snv 9.7E-03 0.010 1.000 1 2016 2016
dbSNP: rs151139112
rs151139112
PLA2G1B
1 1.000 0.040 12 120322275 missense variant C/T snv 8.9E-04 3.2E-03 0.010 1.000 1 2018 2018
dbSNP: rs2277212
rs2277212
CELF2
1 1.000 0.040 10 11257772 synonymous variant A/T snv 0.75 0.74 0.010 1.000 1 2016 2016
dbSNP: rs2298991
rs2298991
EGF
1 1.000 0.040 4 109970856 intron variant T/A;G snv 0.010 1.000 1 2009 2009
dbSNP: rs2515475
rs2515475
ANGPT2 ; MCPH1
1 1.000 0.040 8 6530918 intron variant C/T snv 0.19 0.010 1.000 1 2009 2009
dbSNP: rs2592178
rs2592178
TIA1 ; C2orf42
1 1.000 0.040 2 70245350 intron variant G/A snv 0.27 0.010 1.000 1 2016 2016
dbSNP: rs34568801
rs34568801
PLA2G2A
1 1.000 0.040 1 19975708 missense variant C/T snv 4.6E-03 4.3E-03 0.010 1.000 1 2018 2018
dbSNP: rs3814634
rs3814634
CELF2 ; CELF2-AS2
1 1.000 0.040 10 11099442 splice region variant G/T snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs3848719
rs3848719
ZNF335
1 1.000 0.040 20 45967906 synonymous variant G/A snv 0.33 0.32 0.010 1.000 1 2014 2014
dbSNP: rs4698803
rs4698803
EGF
1 1.000 0.040 4 109993271 missense variant A/G;T snv 0.85 0.010 1.000 1 2009 2009
dbSNP: rs516651
rs516651
EGLN1
1 1.000 0.040 1 231406910 intron variant C/T snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs6533485
rs6533485
EGF
1 1.000 0.040 4 110006407 intron variant G/C snv 0.61 0.010 1.000 1 2009 2009
dbSNP: rs672961
rs672961
LRRC7
1 1.000 0.040 1 70101505 intron variant C/G snv 0.99 0.010 1.000 1 2015 2015
dbSNP: rs7068124
rs7068124
CELF2
1 1.000 0.040 10 11023453 intron variant T/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs7692976
rs7692976
EGF
2 1.000 0.040 4 109990411 intron variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs78142040
rs78142040
ARSD
1 1.000 0.040 X 2914730 non coding transcript exon variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs782230926
rs782230926
HAP1
1 1.000 0.040 17 41734538 missense variant G/T snv 8.4E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs9605146
rs9605146
XKR3
1 1.000 0.040 22 16784304 missense variant G/A snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs1042689672
rs1042689672
SFTPA2
2 0.925 0.080 10 79557504 missense variant A/G snv 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs117603931
rs117603931
ABCA3
4 0.882 0.080 16 2319591 missense variant C/T snv 5.7E-03 6.5E-03 0.010 1.000 1 2016 2016
dbSNP: rs121434431
rs121434431
TLR3
4 0.851 0.080 4 186083346 missense variant C/T snv 4.1E-04 5.2E-04 0.010 1.000 1 2019 2019
dbSNP: rs146709251
rs146709251
ABCA3
3 0.882 0.080 16 2279070 missense variant G/A snv 4.3E-03 3.0E-03 0.010 1.000 1 2016 2016
dbSNP: rs3774934
rs3774934
NFKB1
4 0.851 0.080 4 102506319 intron variant A/C;G;T snv 0.010 1.000 1 2019 2019