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: rs11724804
rs11724804
DGKQ
4 0.882 0.160 4 971991 intron variant G/A snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs13101828
rs13101828
DGKQ
6 0.851 0.160 4 971932 intron variant A/G snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs1133906
rs1133906
SAMD9L
2 0.925 0.080 7 93135669 synonymous variant C/T snv 0.22 0.28 0.800 1.000 1 2013 2013
dbSNP: rs1372834938
rs1372834938
KIDINS220
12 0.763 0.280 2 8812465 missense variant G/C snv 4.2E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs11117432
rs11117432 		4 0.851 0.200 16 85985665 upstream gene variant G/A snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs2280381
rs2280381 		3 0.882 0.080 16 85985027 intron variant C/T snv 0.64 0.010 1.000 1 2013 2013
dbSNP: rs35929052
rs35929052 		5 0.827 0.160 16 85960878 downstream gene variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11642873
rs11642873 		4 0.851 0.280 16 85958099 intergenic variant A/C snv 0.15 0.800 1.000 1 2011 2011
dbSNP: rs12711490
rs12711490 		4 0.925 0.080 16 85939422 intron variant T/C snv 0.18 0.800 1.000 1 2013 2013
dbSNP: rs11117420
rs11117420
LINC02132
1 1.000 0.040 16 85938316 intron variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1130866
rs1130866
SFTPB
9 0.827 0.160 2 85666618 missense variant G/A;C snv 0.50 0.010 1.000 1 2008 2008
dbSNP: rs1322403577
rs1322403577
SFTPA1
4 0.882 0.120 10 79613818 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs228648
rs228648
UTS2
13 0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52 0.010 1.000 1 2012 2012
dbSNP: rs2890565
rs2890565
UTS2
15 0.732 0.440 1 7849677 missense variant C/T snv 8.7E-02 5.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs7900522
rs7900522
LRMDA
1 1.000 0.040 10 76350213 intron variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs4789182
rs4789182
GRB2
1 1.000 0.040 17 75378864 intron variant G/A snv 0.55 0.700 1.000 1 2013 2013
dbSNP: rs1005714
rs1005714
GGA3 ; NUP85
1 1.000 0.040 17 75228544 5 prime UTR variant G/C snv 0.78 0.700 1.000 1 2019 2019
dbSNP: rs7172677
rs7172677 		2 0.925 0.080 15 75132252 intergenic variant A/C snv 0.71 0.800 1.000 1 2013 2013
dbSNP: rs1378942
rs1378942
CSK
16 0.790 0.240 15 74785026 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs117026326
rs117026326
GTF2I ; LOC101926943
10 0.752 0.440 7 74711703 intron variant C/T snv 1.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs193107685
rs193107685 		4 0.851 0.160 7 74123572 downstream gene variant T/C snv 1.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs1328142
rs1328142
TRPM3
1 1.000 0.040 9 70783498 intron variant C/A snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs763361
rs763361
CD226
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.040 1.000 4 2011 2017
dbSNP: rs3790566
rs3790566
IL12RB2
1 1.000 0.040 1 67348757 intron variant T/C snv 0.61 0.800 1.000 2 2013 2019
dbSNP: rs6659932
rs6659932
IL12RB2
5 0.827 0.240 1 67336688 intron variant A/C snv 0.81 0.700 1.000 1 2019 2019