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: rs565021665
rs565021665 		1 1 159313100 downstream gene variant TTTTTTTTTTTTTT/-;TTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTT delins 7.4E-02 0.700 1.000 2 2016 2019
dbSNP: rs35163651
rs35163651
NFYA ; OARD1
1 6 41086523 intron variant TTTT/-;TTT;TTTTT;TTTTTT delins 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: rs34687215
rs34687215
WDR26
1 1 224394506 intron variant TT/-;T;TTT;TTTTT;TTTTTT;TTTTTTT delins 0.19 0.700 1.000 1 2016 2016
dbSNP: rs140740457
rs140740457 		1 11 122629782 regulatory region variant TT/-;T;TTT;TTTTT delins 0.13 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: rs74267027
rs74267027
PIGL
3 17 16268374 intron variant TT/- delins 0.40 0.700 1.000 1 2016 2016
dbSNP: rs146318841
rs146318841
AHI1
4 6 135328483 intron variant TGCCATAAACCATAGCCATAG/-;TGCCATAAACCATAGCCATAGTGCCATAAACCATAGCCATAG 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: rs138171347
rs138171347 		1 17 5279909 upstream gene variant TAAA/-;TAAATAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs10840291
rs10840291
SWAP70
1 11 9708594 intron variant T/G snv 0.34 0.700 1.000 1 2019 2019
dbSNP: rs11602323
rs11602323 		1 11 122648573 regulatory region variant T/G snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs117342529
rs117342529
LOC105379318
1 8 21853230 intergenic variant T/G snv 2.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs12074934
rs12074934 		1 1 159338281 intergenic variant T/G snv 0.19 0.700 1.000 1 2011 2011
dbSNP: rs12144133
rs12144133
UBE4B
1 1 10144128 intron variant T/G snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs12740969
rs12740969
TDRD10
1 1 154514584 intron variant T/G snv 0.50 0.700 1.000 1 2019 2019
dbSNP: rs17038861
rs17038861
HEATR5B
1 2 37006122 intron variant T/G snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs1997814
rs1997814
JAG1
1 20 10666023 intron variant T/G snv 0.73 0.700 1.000 1 2019 2019
dbSNP: rs2227336
rs2227336
MED24
1 17 40018602 upstream gene variant T/G snv 0.36 0.700 1.000 1 2017 2017
dbSNP: rs2247584
rs2247584
FCER1A
1 1 159289890 intron variant T/G snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs2517510
rs2517510 		1 6 31062345 downstream gene variant T/G snv 0.45 0.800 1.000 1 2011 2011
dbSNP: rs2758684
rs2758684 		1 1 157567740 regulatory region variant T/G snv 0.54 0.700 1.000 1 2011 2011
dbSNP: rs2785663
rs2785663 		2 1.000 0.040 1 157650968 intergenic variant T/G snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs28521954
rs28521954
IFITM2
1 11 307999 5 prime UTR variant T/G snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs28687325
rs28687325 		1 17 59278069 upstream gene variant T/G snv 0.19 0.700 1.000 1 2019 2019