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: rs200476039
rs200476039
EML6
3 2 54760823 intron variant TTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT delins 5.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs36058533
rs36058533 		2 2 96570916 intergenic variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs60432162
rs60432162
BPTF
2 17 67884422 intron variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs34025520
rs34025520 		1 7 20543533 intergenic variant TTC/- delins 0.19 0.700 1.000 1 2016 2016
dbSNP: rs34208856
rs34208856
HBS1L
6 6 135099930 intron variant TT/-;T;TTT;TTTTTTTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs140948517
rs140948517
RHBDD2
2 7 75857462 intron variant TT/-;T;TTT;TTTT;TTTTTTTTTTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs397731840
rs397731840
CCDC26
5 8 129599504 intron variant TT/-;T;TTT;TTTT;TTTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs371638091
rs371638091 		2 12 120920824 downstream gene variant TT/-;T;TTT delins 0.33 0.700 1.000 1 2016 2016
dbSNP: rs796650675
rs796650675
SP140
2 2 230312486 intron variant TT/-;T;TTT delins 0.700 1.000 1 2016 2016
dbSNP: rs139707092
rs139707092
SPC25 ; NOSTRIN
5 2 168850753 intron variant TCTCTGGAAT/-;TCTCTGGAATTCTCTGGAAT delins 0.700 1.000 1 2016 2016
dbSNP: rs71718386
rs71718386
FOXO1
1 13 40650151 intron variant TATA/- delins 0.41 0.700 1.000 1 2016 2016
dbSNP: rs35643768
rs35643768
SP140
1 2 230257375 intron variant TAAG/-;TAAGTAAG delins 0.700 1.000 1 2016 2016
dbSNP: rs10062687
rs10062687
ANKRD33B
1 5 10624754 missense variant T/G snv 0.18 0.20 0.700 1.000 2 2016 2019
dbSNP: rs11164971
rs11164971 		1 1 91576688 regulatory region variant T/G snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs1271582
rs1271582
MAX
1 14 65097985 intron variant T/G snv 0.50 0.700 1.000 1 2019 2019
dbSNP: rs12759042
rs12759042 		1 1 12045275 intergenic variant T/G snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs1353286
rs1353286 		1 3 27730523 intergenic variant T/G snv 0.60 0.700 1.000 1 2019 2019
dbSNP: rs143321615
rs143321615 		1 11 512805 intron variant T/G snv 1.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs150946191
rs150946191
IL1R1
1 2 102116028 intron variant T/G snv 1.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs16956811
rs16956811
CCL17
2 16 57410090 intron variant T/G snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs2302006
rs2302006
CCL24
2 7 75813412 missense variant T/G snv 0.29 0.25 0.700 1.000 1 2016 2016
dbSNP: rs2823376
rs2823376
LOC105369302
1 21 15561677 intron variant T/G snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs3024971
rs3024971
STAT6
7 0.827 0.200 12 57099944 intron variant T/G snv 7.8E-02 7.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs35150201
rs35150201
STMP1
3 7 135661514 upstream gene variant T/G snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs4143832
rs4143832 		4 0.925 0.080 5 132527285 intron variant T/G snv 0.76 0.800 1.000 1 2009 2009