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: rs71297631
rs71297631
TEX9
2 15 56369974 intron variant -/A ins 0.700 1.000 1 2017 2017
dbSNP: rs35113840
rs35113840
ILKAP
2 2 238193015 intron variant -/A;AA delins 0.700 1.000 1 2016 2016
dbSNP: rs112329286
rs112329286
SYNE2
4 1.000 0.080 14 63773159 intron variant -/ATTT delins 0.24 0.700 1.000 1 2017 2017
dbSNP: rs555594022
rs555594022 		2 20 36983292 intergenic variant -/C ins 0.700 1.000 1 2016 2016
dbSNP: rs34595852
rs34595852 		2 9 86263457 upstream gene variant -/CT delins 0.75 0.700 1.000 1 2017 2017
dbSNP: rs3840870
rs3840870
COL1A1
13 17 50184820 3 prime UTR variant -/CTTG delins 0.700 1.000 1 2019 2019
dbSNP: rs112908525
rs112908525
CD36
3 7 80675962 intron variant -/GGGTTGAGA delins 0.38 0.700 1.000 1 2017 2017
dbSNP: rs201184664
rs201184664
TUBD1
2 17 59873258 intron variant -/GT delins 0.700 1.000 1 2017 2017
dbSNP: rs150803770
rs150803770 		2 3 49432529 upstream gene variant -/GTTTATTT;TTTTATTT;TTTTATTTATTT;TTTTATTTATTTATTT;TTTTATTTATTTATTTATTT delins 0.700 1.000 1 2017 2017
dbSNP: rs79237498
rs79237498
RAC1
2 7 6397234 intron variant -/T;TT delins 0.700 1.000 1 2016 2016
dbSNP: rs548223088
rs548223088
RBL1
2 20 37035116 intron variant -/TA ins 0.700 1.000 1 2017 2017
dbSNP: rs35995659
rs35995659
LINC00216 ; ARMH4 ; PSMA3-AS1
2 14 58287055 intron variant -/TT ins 0.82 0.700 1.000 1 2017 2017
dbSNP: rs200980971
rs200980971
CCDC162P
2 6 109261139 intron variant A/-;AA delins 0.700 1.000 1 2017 2017
dbSNP: rs10923398
rs10923398 		2 1 117708553 regulatory region variant A/C snv 0.16 0.700 1.000 3 2016 2019
dbSNP: rs2857078
rs2857078
SLC4A1
5 17 44252803 intron variant A/C snv 0.62 0.700 1.000 2 2016 2019
dbSNP: rs3169166
rs3169166
DNAJA4
3 15 78270761 intron variant A/C snv 0.42 0.700 1.000 2 2017 2019
dbSNP: rs10516140
rs10516140
SQSTM1
2 5 179813910 intron variant A/C snv 0.76 0.700 1.000 1 2019 2019
dbSNP: rs10952780
rs10952780
EZH2
2 7 148857243 intron variant A/C snv 0.46 0.700 1.000 1 2019 2019
dbSNP: rs11103379
rs11103379
LHX3
2 9 136205504 upstream gene variant A/C snv 0.48 0.700 1.000 1 2019 2019
dbSNP: rs111929233
rs111929233
LOC105370051
2 12 124893863 intergenic variant A/C snv 9.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs11244669
rs11244669
DHX32 ; BCCIP
4 10 125844213 intron variant A/C snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs11716413
rs11716413
TRIM59 ; TRIM59-IFT80
2 3 160458109 intron variant A/C snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs12137294
rs12137294 		2 1 205213744 upstream gene variant A/C snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs12903987
rs12903987 		2 15 89237741 intergenic variant A/C snv 0.47 0.700 1.000 1 2019 2019
dbSNP: rs138665726
rs138665726
UBE2L3
3 22 21563570 intron variant A/C snv 0.17 0.700 1.000 1 2016 2016