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: rs34214868
rs34214868
DRAIC
1 15 69732152 intron variant -/C;CAAAAAC ins 0.700 1.000 1 2017 2017
dbSNP: rs34322845
rs34322845
CRADD
1 12 93790493 intron variant -/TAAC ins 0.700 1.000 1 2017 2017
dbSNP: rs34957094
rs34957094
MEF2C-AS1
1 5 88979517 intron variant -/C ins 2.0E-05 0.700 1.000 1 2017 2017
dbSNP: rs397807524
rs397807524
ADAMTS17
1 15 100052239 intron variant -/AA ins 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs5839768
rs5839768
BOK
1 2 241561143 intron variant -/T;TGCT ins 0.53 0.700 1.000 1 2019 2019
dbSNP: rs71061176
rs71061176
CCND2-AS1
1 12 4269579 intron variant -/T ins 0.18 0.700 1.000 1 2019 2019
dbSNP: rs76411146
rs76411146 		1 8 141386279 downstream gene variant -/T ins 0.16 0.700 1.000 1 2019 2019
dbSNP: rs11323064
rs11323064 		1 11 69465339 upstream gene variant A/- del 0.21 0.700 1.000 1 2019 2019
dbSNP: rs138647241
rs138647241
VTA1
1 6 142194305 intron variant A/- del 0.20 0.700 1.000 1 2017 2017
dbSNP: rs139770255
rs139770255 		1 10 79377945 upstream gene variant AT/- del 0.59 0.700 1.000 1 2017 2017
dbSNP: rs139901282
rs139901282
ID4
1 6 19840722 3 prime UTR variant TT/- del 0.28 0.700 1.000 1 2017 2017
dbSNP: rs200235318
rs200235318
ZBTB38
1 3 141394029 intron variant TG/- del 0.700 1.000 1 2017 2017
dbSNP: rs200560216
rs200560216
IPPK ; LOC107987095
1 9 92672140 upstream gene variant T/- del 0.13 0.700 1.000 1 2019 2019
dbSNP: rs201257518
rs201257518 		1 5 115680693 intergenic variant T/- del 0.27 0.700 1.000 1 2019 2019
dbSNP: rs34001204
rs34001204
PNKD ; LOC105373880 ; LOC105373881
1 2 218314933 intron variant A/- del 0.44 0.700 1.000 1 2017 2017
dbSNP: rs34951274
rs34951274
SCARA3
1 8 27691192 intergenic variant T/- del 0.17 0.700 1.000 1 2019 2019
dbSNP: rs35056343
rs35056343 		1 15 81543120 intron variant T/- del 0.65 0.700 1.000 1 2019 2019
dbSNP: rs5778914
rs5778914
PAPPA2
1 1 176818614 intron variant T/- del 0.65 0.700 1.000 1 2019 2019
dbSNP: rs59596477
rs59596477 		1 10 27655616 intergenic variant G/- del 0.16 0.700 1.000 1 2019 2019
dbSNP: rs111470917
rs111470917
ADAMTSL3
1 15 83916786 intron variant -/TAAA delins 0.700 1.000 1 2019 2019
dbSNP: rs111508058
rs111508058
CASC20
1 20 6430242 intergenic variant GGGCTTGGCCCTGGAGTA/-;GGGCTTGGCCCTGGAGTAGGGCTTGGCCCTGGAGTA delins 0.700 1.000 1 2017 2017
dbSNP: rs112489358
rs112489358
SCN4A
1 17 63939368 3 prime UTR variant CATATATACA/-;CATATATACACATATATACA delins 0.700 1.000 1 2019 2019
dbSNP: rs112700046
rs112700046
ZSCAN2 ; LOC105370947
1 15 84614163 intron variant T/-;TT;TTT delins 0.700 1.000 1 2017 2017
dbSNP: rs11270967
rs11270967 		1 8 56292882 regulatory region variant -/TGTATTATCTTTTGTTTAAACCTTAGCCTT delins 0.700 1.000 1 2017 2017
dbSNP: rs113168705
rs113168705
ZNF346
1 5 177081190 downstream gene variant A/-;AA;AAA delins 0.700 1.000 1 2017 2017