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: rs34173062
rs34173062
SHARPIN ; MAF1
3 8 144103704 missense variant G/A;C snv 7.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs34290285
rs34290285
D2HGDH
8 0.851 0.120 2 241759225 intron variant G/A snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs34712979
rs34712979
NPNT
5 1.000 0.040 4 105897896 splice region variant G/A;T snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs35621564
rs35621564 		2 1.000 0.080 7 20547220 regulatory region variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs36045143
rs36045143
CLEC16A ; LOC105371081
3 1.000 0.080 16 11131109 intron variant A/G snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs3744787
rs3744787
TIMP2 ; CEP295NL
1 17 78897589 non coding transcript exon variant A/G snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs3749833
rs3749833
IRF1-AS1
4 0.925 0.080 5 132463934 non coding transcript exon variant T/C snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs3781094
rs3781094
GATA3
2 1.000 0.120 10 8059464 intron variant A/C snv 0.52 0.700 1.000 1 2019 2019
dbSNP: rs3785356
rs3785356
IL4R
5 0.925 0.080 16 27337847 intron variant C/T snv 0.25 0.700 1.000 1 2019 2019
dbSNP: rs3813308
rs3813308
TNFAIP8 ; LOC102723444
2 1.000 0.080 5 119355086 5 prime UTR variant C/G snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs3939286
rs3939286 		12 0.776 0.360 9 6210099 regulatory region variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs41283642
rs41283642
TGFBR1
1 9 99153605 3 prime UTR variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4129267
rs4129267
IL6R
13 0.807 0.200 1 154453788 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4247364
rs4247364
SPATA32 ; MAP3K14-AS1
2 1.000 0.080 17 45259320 intron variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4713841
rs4713841 		1 6 35189310 intergenic variant T/C snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs479844
rs479844 		6 0.851 0.160 11 65784486 upstream gene variant A/G snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs4845604
rs4845604
RORC
10 0.776 0.200 1 151829204 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4910165
rs4910165
MRVI1
2 11 10652497 intron variant C/G snv 0.78 0.700 1.000 1 2019 2019
dbSNP: rs56147623
rs56147623 		1 2 102553704 intergenic variant G/A snv 3.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs57347370
rs57347370
GJA1
1 6 121440942 intron variant G/T snv 0.25 0.700 1.000 1 2019 2019
dbSNP: rs5743618
rs5743618
TLR1
25 0.677 0.360 4 38797027 missense variant C/A snv 0.53 0.51 0.700 1.000 1 2019 2019
dbSNP: rs59185885
rs59185885
IL18R1 ; IL1RL1
2 1.000 0.040 2 102327786 intron variant T/G snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs6011033
rs6011033
RTEL1 ; RTEL1-TNFRSF6B
2 20 63691346 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs61957178
rs61957178 		1 13 73421057 intron variant C/T snv 0.19 0.700 1.000 1 2019 2019