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: rs774361108
rs774361108
DIP2B
1 12 50503206 upstream gene variant TTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs544436097
rs544436097
RND3
1 2 150498091 intron variant TTTTT/-;T;TT;TTT;TTTT;TTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTTT delins 0.700 1.000 1 2019 2019
dbSNP: rs796246678
rs796246678 		1 13 32571161 intergenic variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTTTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs377602035
rs377602035
EGF
1 4 109937360 intron variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs58788809
rs58788809
JAK2 ; INSL6
1 9 5038597 intron variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs11348701
rs11348701
ATXN2
1 12 111452430 3 prime UTR variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT delins 0.31 0.700 1.000 1 2016 2016
dbSNP: rs3060245
rs3060245
GSE1
1 16 85672811 3 prime UTR variant TTTCTTA/- delins 0.700 1.000 1 2016 2016
dbSNP: rs144744357
rs144744357
MYO9B
1 19 17084024 intron variant TTAATAACCCTTTGGG/-;TTAATAACCCTTTGGGTTAATAACCCTTTGGG delins 0.700 1.000 1 2016 2016
dbSNP: rs553314025
rs553314025
AP1M2
1 19 10576094 intron variant TT/-;T;TTT;TTTT;TTTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs141043717
rs141043717
TMEM116
1 12 111933656 intron variant TT/-;T;TTT delins 0.19 0.700 1.000 1 2016 2016
dbSNP: rs57129396
rs57129396
FAM160A1
1 4 151443617 intron variant TT/-;T;TTT delins 0.700 1.000 1 2016 2016
dbSNP: rs13236689
rs13236689
CD36
2 7 80606698 intron variant T/G snv 0.44 0.700 1.000 2 2012 2019
dbSNP: rs3819299
rs3819299
HLA-B
5 1.000 6 31354590 non coding transcript exon variant T/G snv 7.7E-02 2.3E-02 0.800 1.000 2 2011 2016
dbSNP: rs505404
rs505404
PSMD13
2 11 243268 non coding transcript exon variant T/G snv 0.28 0.800 1.000 2 2011 2014
dbSNP: rs12458093
rs12458093 		1 18 51152780 intergenic variant T/G snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs12526480
rs12526480
CARMIL1
2 6 25533306 intron variant T/G snv 0.32 0.700 1.000 1 2012 2012
dbSNP: rs2411233
rs2411233
LINC02694
1 15 38982551 intron variant T/G snv 0.61 0.700 1.000 1 2016 2016
dbSNP: rs2894802
rs2894802
GSTA1
1 6 52791371 3 prime UTR variant T/G snv 0.63 0.700 1.000 1 2016 2016
dbSNP: rs35427
rs35427 		2 12 115118502 intergenic variant T/G snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs56116444
rs56116444
NREP ; STARD4-AS1
1 5 111726150 intron variant T/G snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs7149242
rs7149242 		1 14 100693079 intergenic variant T/G snv 0.62 0.800 1.000 1 2011 2011
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.800 1.000 3 2011 2018
dbSNP: rs11071720
rs11071720
TPM1 ; TPM1-AS
3 15 63049797 intron variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1668871
rs1668871
TMCC2
2 1 205268009 intron variant T/C;G snv 0.800 1.000 1 2011 2011
dbSNP: rs17568628
rs17568628 		2 5 76751114 intergenic variant T/C;G snv 0.800 1.000 1 2011 2011