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: rs142529006
rs142529006
ZKSCAN1
4 7 100022093 intron variant T/A snv 6.9E-03 0.700 1.000 1 2019 2019
dbSNP: rs117460458
rs117460458
TAF6 ; AP4M1
1 7 100108776 3 prime UTR variant C/G snv 1.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs10148930
rs10148930
EVL
1 14 100134466 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10496344
rs10496344
AFF3
1 2 100147663 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs17250196
rs17250196
STAG3 ; PVRIG ; CASTOR3
2 7 100219573 3 prime UTR variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs12532878
rs12532878
MOSPD3
2 7 100614631 intron variant G/A;C snv 0.18 0.700 1.000 1 2017 2017
dbSNP: rs7786877
rs7786877 		3 7 100616392 downstream gene variant A/G snv 0.22 0.700 1.000 1 2017 2017
dbSNP: rs4729597
rs4729597
TFR2
2 7 100624226 intron variant C/T snv 0.69 0.700 1.000 1 2019 2019
dbSNP: rs62482241
rs62482241
TFR2
2 7 100637885 intron variant G/A snv 0.23 0.700 1.000 1 2018 2018
dbSNP: rs7385804
rs7385804
TFR2
14 0.851 0.120 7 100638347 intron variant C/A snv 0.65 0.700 1.000 1 2016 2016
dbSNP: rs4434553
rs4434553
TFR2
5 1.000 0.040 7 100642568 intron variant A/G snv 0.40 0.700 1.000 1 2012 2012
dbSNP: rs1555405
rs1555405 		2 14 100710432 regulatory region variant G/A snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs142267802
rs142267802
ZAN
1 7 100743255 intron variant C/T snv 1.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs116979562
rs116979562
EPHB4
2 7 100816525 intron variant G/A snv 1.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs143228326
rs143228326
SLC12A9
1 7 100834812 intron variant G/A snv 1.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs7790961
rs7790961 		1 7 101111694 intergenic variant G/A snv 0.96 0.700 1.000 1 2019 2019
dbSNP: rs35094522
rs35094522
PLOD3 ; ZNHIT1
1 7 101219111 non coding transcript exon variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs9859077
rs9859077
SENP7
2 3 101417558 intron variant G/A;C snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs149727694
rs149727694
SENP7
1 3 101442847 intron variant A/-;AA;AAA delins 0.700 1.000 1 2016 2016
dbSNP: rs61874020
rs61874020
BTRC
1 10 101503499 intron variant C/T snv 0.10 0.700 1.000 1 2019 2019
dbSNP: rs2690935
rs2690935 		1 7 101767398 intergenic variant C/T snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs10883710
rs10883710
PPRC1
1 10 102125800 intergenic variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs138828258
rs138828258
PPRC1
1 10 102142302 intron variant AT/-;ATAT delins 0.700 1.000 1 2016 2016
dbSNP: rs2290707
rs2290707
RRM2B ; UBR5-AS1
2 8 102239027 upstream gene variant C/A snv 2.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs72845655
rs72845655
GBF1
1 10 102284277 intron variant A/G snv 1.6E-02 0.700 1.000 1 2019 2019