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: rs113711540
rs113711540
TGFB2 ; TGFB2-AS1
1 1 218346586 5 prime UTR variant -/CAA delins 0.700 1.000 1 2018 2018
dbSNP: rs11391380
rs11391380 		1 3 105336694 intergenic variant -/G ins 0.66 0.700 1.000 1 2018 2018
dbSNP: rs564626594
rs564626594
CDH11
1 16 65021636 intron variant -/G ins 0.700 1.000 1 2018 2018
dbSNP: rs541066455
rs541066455 		1 19 18285867 upstream gene variant -/GA ins 0.700 1.000 1 2018 2018
dbSNP: rs78389809
rs78389809 		1 1 1367373 intergenic variant -/GACTGTTGAG;GCG;GTG ins 0.700 1.000 1 2018 2018
dbSNP: rs530474810
rs530474810 		1 5 53287303 intergenic variant -/TG ins 0.700 1.000 1 2018 2018
dbSNP: rs146200153
rs146200153 		1 11 56695993 upstream gene variant A/-;AA delins 0.700 1.000 1 2018 2018
dbSNP: rs528855147
rs528855147
CAPZA1
1 1 112641982 intron variant A/-;AA;AAA delins 0.700 1.000 1 2018 2018
dbSNP: rs6732795
rs6732795
ANTXR1
1 2 69184385 intron variant A/C snv 0.51 0.700 1.000 3 2017 2018
dbSNP: rs12507127
rs12507127
AFAP1
1 4 7918540 intron variant A/C snv 0.40 0.700 1.000 1 2018 2018
dbSNP: rs12548673
rs12548673
DLC1
1 8 13547260 intron variant A/C snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs12923138
rs12923138
E2F4 ; ELMO3
1 16 67199363 missense variant A/C snv 0.49 0.58 0.700 1.000 1 2018 2018
dbSNP: rs1362227
rs1362227
BBS9
1 7 33472019 intron variant A/C snv 0.64 0.700 1.000 1 2018 2018
dbSNP: rs17030613
rs17030613
CAPZA1
7 1 112648185 intron variant A/C snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs17424999
rs17424999
DNM1P35
1 15 75736028 intron variant A/C snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs199529
rs199529
LRRC37A2
2 17 46759851 downstream gene variant A/C snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs34447926
rs34447926
LTBP1
1 2 33363802 intron variant A/C snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs35638741
rs35638741
PKN2-AS1
1 1 87729564 intron variant A/C snv 0.46 0.700 1.000 1 2018 2018
dbSNP: rs62465642
rs62465642
COL26A1
1 7 101414212 intron variant A/C snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs6437582
rs6437582 		1 3 105354628 TF binding site variant A/C snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs73103335
rs73103335 		1 1 218937686 intergenic variant A/C snv 9.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs77606373
rs77606373
FER
1 5 108750674 intron variant A/C snv 6.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs9297949
rs9297949
NDUFAF6
1 8 94957217 intron variant A/C snv 0.50 0.700 1.000 1 2018 2018
dbSNP: rs12517876
rs12517876
ADAMTS6
1 5 65254494 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs28500712
rs28500712
AFAP1
2 1.000 0.040 4 7894486 intron variant A/C;G snv 0.700 1.000 1 2018 2018