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: rs688187
rs688187 		1 1.000 0.040 19 39242112 upstream gene variant G/A snv 0.39 0.700 1.000 2 2015 2017
dbSNP: rs711830
rs711830
HOXD3 ; HAGLR
3 0.882 0.120 2 176172583 3 prime UTR variant A/C;G;T snv 0.76 0.700 1.000 2 2015 2017
dbSNP: rs752590
rs752590
PAX8-AS1
2 1.000 0.040 2 113215368 intron variant A/G snv 0.27 0.700 1.000 2 2015 2017
dbSNP: rs112071820
rs112071820
MRPS22
1 1.000 0.040 3 139130268 intron variant -/GATTCAGAATCCA delins 0.30 0.700 1.000 1 2017 2017
dbSNP: rs320203
rs320203 		1 1.000 0.040 9 102180944 intergenic variant C/A snv 0.17 0.700 1.000 1 2017 2017
dbSNP: rs6755777
rs6755777
HAGLR ; HAGLROS
3 0.882 0.120 2 176178498 non coding transcript exon variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs72831838
rs72831838
PAX8 ; PAX8-AS1
1 1.000 0.040 2 113258824 non coding transcript exon variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1057519893
rs1057519893
ERBB3
9 0.790 0.160 12 56085070 missense variant G/A;T snv 0.700 0
dbSNP: rs113498671
rs113498671
TNK2
1 1.000 0.040 3 195884972 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs1337040042
rs1337040042
AATK
1 1.000 0.040 17 81131085 start lost T/C snv 0.700 0
dbSNP: rs1423134583
rs1423134583
MYO3A
1 1.000 0.040 10 26096393 missense variant T/A snv 4.0E-06 0.700 0
dbSNP: rs144052967
rs144052967
MELK
1 1.000 0.040 9 36665552 missense variant C/T snv 1.3E-04 6.3E-05 0.700 0
dbSNP: rs200212150
rs200212150
LRRK2
1 1.000 0.040 12 40314084 missense variant G/A;T snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs200610853
rs200610853
WEE2-AS1 ; WEE2
1 1.000 0.040 7 141724247 missense variant G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs201821707
rs201821707
NEK10
1 1.000 0.040 3 27346152 missense variant G/A;C;T snv 3.4E-04; 6.0E-05; 4.0E-06 0.700 0
dbSNP: rs368877591
rs368877591
SNRK ; SNRK-AS1
1 1.000 0.040 3 43348090 missense variant G/A snv 5.9E-05 1.4E-05 0.700 0
dbSNP: rs370624303
rs370624303
ULK1
1 1.000 0.040 12 131910720 missense variant G/A snv 3.2E-05 2.1E-05 0.700 0
dbSNP: rs374535834
rs374535834
PTPRCAP ; RPS6KB2 ; CORO1B ; RPS6KB2-AS1
1 1.000 0.040 11 67435048 missense variant C/A;T snv 4.1E-06; 6.5E-05 0.700 0
dbSNP: rs375029799
rs375029799
TTN ; TTN-AS1 ; LOC101927055
1 1.000 0.040 2 178776873 missense variant C/T snv 2.4E-05 2.1E-05 0.700 0
dbSNP: rs746238409
rs746238409
RYK
1 1.000 0.040 3 134202791 missense variant C/T snv 2.8E-05 2.1E-05 0.700 0
dbSNP: rs753734841
rs753734841
NRBP1 ; KRTCAP3
1 1.000 0.040 2 27440906 missense variant C/T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs755711267
rs755711267
CDKL2
1 1.000 0.040 4 75607279 missense variant C/T snv 3.6E-05 2.8E-05 0.700 0
dbSNP: rs762000831
rs762000831
SPEG ; ASIC4-AS1
1 1.000 0.040 2 219483170 missense variant C/T snv 8.9E-05 1.4E-05 0.700 0
dbSNP: rs773301216
rs773301216
CDK14
1 1.000 0.040 7 91118066 missense variant G/A snv 4.0E-06 1.4E-05 0.700 0