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: rs397507520
rs397507520
PTPN11
39 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 1.000 3 2002 2008
dbSNP: rs10177414
rs10177414
MFF
1 1.000 0.040 2 227346754 non coding transcript exon variant T/C snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs10189905
rs10189905 		2 0.925 0.040 2 198814386 intergenic variant T/G snv 0.12 0.700 1.000 1 2011 2011
dbSNP: rs10226930
rs10226930 		2 0.925 0.040 7 156044601 intergenic variant T/C snv 5.3E-02 0.700 1.000 1 2013 2013
dbSNP: rs10435539
rs10435539 		1 1.000 0.040 8 108155322 intergenic variant G/A snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs10946507
rs10946507
CASC15
1 1.000 0.040 6 22100138 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs11244084
rs11244084 		1 1.000 0.040 9 133324174 downstream gene variant C/T snv 5.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs1129038
rs1129038
HERC2
8 0.851 0.120 15 28111713 3 prime UTR variant C/T snv 0.49 0.50 0.700 1.000 1 2018 2018
dbSNP: rs1151008
rs1151008
LINC02422
2 0.925 0.040 12 31944426 intron variant G/T snv 0.55 0.700 1.000 1 2013 2013
dbSNP: rs115732928
rs115732928
PROX1-AS1
1 1.000 0.040 1 213980745 intron variant A/T snv 3.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs116771750
rs116771750
LYPLAL1-AS1
1 1.000 0.040 1 219525708 intergenic variant T/C snv 2.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs12196123
rs12196123
CASC15
1 1.000 0.040 6 22082034 intron variant C/T snv 0.47 0.700 1.000 1 2018 2018
dbSNP: rs12212674
rs12212674
CASC15
1 1.000 0.040 6 22086845 intron variant T/A snv 0.48 0.700 1.000 1 2015 2015
dbSNP: rs1366200
rs1366200
LVRN
1 1.000 0.040 5 115986122 intron variant T/G snv 0.41 0.700 1.000 1 2015 2015
dbSNP: rs139743
rs139743
SGSM1
1 1.000 0.040 22 24903462 intron variant A/G snv 0.53 0.700 1.000 1 2018 2018
dbSNP: rs1401327
rs1401327 		1 1.000 0.040 2 49820345 intergenic variant G/A snv 0.12 0.700 1.000 1 2015 2015
dbSNP: rs141045115
rs141045115 		1 1.000 0.040 21 41015177 intron variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs17172445
rs17172445
EGFR
1 1.000 0.040 7 55121522 intron variant G/T snv 2.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs2309717
rs2309717
LOC105374557
1 1.000 0.040 4 28248616 intron variant C/A snv 0.19 0.700 1.000 1 2015 2015
dbSNP: rs34635363
rs34635363
NPLOC4
1 1.000 0.040 17 81582224 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs3771395
rs3771395
VAX2
2 0.925 0.040 2 70905884 intron variant G/A snv 0.13 0.700 1.000 1 2013 2013
dbSNP: rs4799964
rs4799964 		1 1.000 0.040 18 30405513 intron variant T/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs6029691
rs6029691
CHD6
1 1.000 0.040 20 41465724 intron variant C/G snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs7534824
rs7534824
LOC101928334
1 1.000 0.040 1 101155890 intergenic variant A/G snv 7.2E-02 0.700 1.000 1 2015 2015
dbSNP: rs7677751
rs7677751
PDGFRA
3 0.925 0.040 4 54258293 intron variant C/T snv 0.18 0.700 1.000 1 2011 2011