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: rs13389219
rs13389219
COBLL1
9 1.000 0.080 2 164672366 intron variant C/T snv 0.47 0.800 1.000 2 2013 2019
dbSNP: rs1345203
rs1345203
MIR4435-2HG ; SOCAR
2 2 111496274 intron variant T/C;G snv 0.700 1.000 2 2019 2019
dbSNP: rs1534696
rs1534696
SNX10
3 7 26357619 intron variant C/A snv 0.58 0.700 1.000 2 2019 2019
dbSNP: rs16891532
rs16891532
BCKDHB
1 6 80213275 intron variant C/A snv 0.12 0.700 1.000 2 2018 2019
dbSNP: rs17041868
rs17041868
BCL2L11 ; MIR4435-2HG
1 2 111137143 intron variant T/C snv 9.2E-02 0.700 1.000 2 2018 2019
dbSNP: rs17109256
rs17109256
NRXN3
3 14 79473650 intron variant G/A snv 0.21 0.700 1.000 2 2015 2019
dbSNP: rs2047937
rs2047937
ZNF423
5 0.925 0.120 16 49830880 intron variant C/T snv 0.50 0.700 1.000 2 2018 2019
dbSNP: rs2058914
rs2058914
USP3
1 15 63539785 intron variant G/A snv 0.68 0.700 1.000 2 2018 2019
dbSNP: rs2236519
rs2236519
EYA2 ; LOC101927355
2 20 46900932 intron variant G/A;T snv 0.700 1.000 2 2018 2019
dbSNP: rs2287019
rs2287019
QPCTL
7 1.000 0.080 19 45698914 intron variant C/T snv 0.17 0.16 0.700 1.000 2 2015 2019
dbSNP: rs2371767
rs2371767
ADAMTS9-AS2
5 3 64732582 intron variant G/C snv 0.38 0.700 1.000 2 2018 2019
dbSNP: rs2595004
rs2595004
ATG7
1 3 11365247 intron variant C/T snv 0.88 0.700 1.000 2 2018 2019
dbSNP: rs28451064
rs28451064 		3 0.925 0.080 21 34221526 intron variant G/A snv 9.2E-02 0.700 1.000 2 2019 2019
dbSNP: rs362275
rs362275
HTT
1 4 3222875 intron variant C/T snv 0.24 0.700 1.000 2 2018 2019
dbSNP: rs39312
rs39312
CFTR ; WNT2 ; LOC105375467
1 7 117314731 intron variant A/C snv 0.43 0.700 1.000 2 2018 2019
dbSNP: rs4727695
rs4727695
LAMB1
1 7 107973558 intron variant A/G snv 8.3E-02 0.700 1.000 2 2018 2019
dbSNP: rs4779526
rs4779526
KLF13
1 15 31413480 intron variant A/T snv 0.23 0.700 1.000 2 2018 2019
dbSNP: rs4851221
rs4851221
AFF3
1 2 99663560 intron variant G/A snv 0.85 0.700 1.000 2 2018 2019
dbSNP: rs4902632
rs4902632
RAD51B
1 14 68682711 intron variant A/C;T snv 0.700 1.000 2 2018 2019
dbSNP: rs4929927
rs4929927
TRIM66
1 11 8636938 intron variant A/G;T snv 0.700 1.000 2 2015 2019
dbSNP: rs55747707
rs55747707
MLXIPL
5 7 73623036 intron variant G/A snv 0.16 0.700 1.000 2 2019 2019
dbSNP: rs56271783
rs56271783
VEGFB
2 11 64237251 intron variant G/A;C;T snv 3.6E-05; 3.7E-02 0.700 1.000 2 2019 2019
dbSNP: rs634869
rs634869 		5 6 139510620 intron variant T/A;C snv 0.700 1.000 2 2018 2019
dbSNP: rs6433219
rs6433219
MYO3B
1 2 170564615 intron variant G/A snv 0.19 0.700 1.000 2 2018 2019
dbSNP: rs664532
rs664532
COL4A1
1 13 110280016 intron variant T/C snv 0.55 0.700 1.000 2 2019 2019