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: rs149379258
rs149379258 		1 6 118333210 intergenic variant -/A delins 0.10 0.700 1.000 1 2019 2019
dbSNP: rs5883070
rs5883070 		5 7 27240226 intron variant -/AAAACA;AACA delins 0.91 0.700 1.000 1 2018 2018
dbSNP: rs528266117
rs528266117
GLT8D1
1 3 52695764 non coding transcript exon variant -/ATTA delins 1.5E-03 0.700 1.000 1 2017 2017
dbSNP: rs112925537
rs112925537
INO80
2 15 41042015 intron variant -/C ins 0.700 1.000 1 2017 2017
dbSNP: rs35295665
rs35295665
CASZ1
2 1 10737371 intron variant -/C delins 0.700 1.000 1 2018 2018
dbSNP: rs10628234
rs10628234 		2 15 74918801 downstream gene variant -/CA delins 0.700 1.000 1 2018 2018
dbSNP: rs35571646
rs35571646 		1 11 100662632 upstream gene variant -/CTAT ins 0.34 0.700 1.000 1 2019 2019
dbSNP: rs34862067
rs34862067
ESR1
1 6 152018839 intron variant -/GAA delins 0.22 0.700 1.000 1 2019 2019
dbSNP: rs142065594
rs142065594 		1 11 107220703 intergenic variant -/GT delins 0.40 0.700 1.000 1 2019 2019
dbSNP: rs111524356
rs111524356
CEP68 ; LOC107984063
2 2 65057022 intron variant -/GTGGATGCAGCAG;TGGATGCAGCAG;TGGATGCGGCAG;TGTATGCAGCAG delins 0.45 0.700 1.000 1 2019 2019
dbSNP: rs558074929
rs558074929
PPL
1 16 4889421 intron variant -/T;TT delins 0.700 1.000 1 2019 2019
dbSNP: rs368910700
rs368910700
EBF1
1 5 158894394 intron variant -/TAAA ins 0.32 0.700 1.000 1 2019 2019
dbSNP: rs142457531
rs142457531 		1 2 190644147 intron variant -/TGAA delins 0.700 1.000 1 2019 2019
dbSNP: rs10712836
rs10712836 		1 8 125498975 intron variant A/- delins 0.48 0.700 1.000 1 2019 2019
dbSNP: rs34271465
rs34271465
COBLL1
1 2 164656556 intron variant A/- delins 0.48 0.700 1.000 1 2017 2017
dbSNP: rs527953512
rs527953512
NRG1
1 8 32533038 intron variant A/-;AA;AAA;AAAA;AAAAAA delins 0.700 1.000 1 2019 2019
dbSNP: rs2289125
rs2289125
NOX4
2 11 89491285 5 prime UTR variant A/C snv 0.69 0.61 0.700 1.000 2 2017 2019
dbSNP: rs2354862
rs2354862 		1 8 63589186 non coding transcript exon variant A/C snv 0.25 0.700 1.000 2 2018 2019
dbSNP: rs6495122
rs6495122 		6 1.000 0.040 15 74833304 downstream gene variant A/C snv 0.44 0.700 1.000 2 2017 2018
dbSNP: rs76326501
rs76326501
LOC105374567 ; LOC112268413
2 2 42940738 intergenic variant A/C snv 5.7E-02 0.700 1.000 2 2019 2019
dbSNP: rs8098380
rs8098380
YES1
4 18 721563 downstream gene variant A/C snv 0.33 0.700 1.000 2 2018 2018
dbSNP: rs10143078
rs10143078
COX16 ; SYNJ2BP ; SYNJ2BP-COX16
2 14 70414772 intron variant A/C snv 6.6E-02 0.700 1.000 1 2014 2014
dbSNP: rs10203824
rs10203824 		1 2 190731124 intergenic variant A/C snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs10429910
rs10429910
ZBTB41
1 1 197172123 intron variant A/C snv 0.28 0.21 0.700 1.000 1 2019 2019
dbSNP: rs10876531
rs10876531
HOXC4
1 12 54049934 intron variant A/C snv 0.34 0.700 1.000 1 2019 2019