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: rs11104632
rs11104632 		2 12 87829908 intergenic variant G/A snv 0.16 0.700 1.000 1 2016 2016
dbSNP: rs13211840
rs13211840
UST
2 6 148791054 intron variant T/C snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs2567241
rs2567241
CLGN
4 4 140402008 missense variant C/A snv 5.2E-02 6.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs11109811
rs11109811 		1 12 78448289 intron variant C/G snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs113918189
rs113918189
CEP83
2 12 94325241 intron variant C/T snv 6.9E-02 0.700 1.000 1 2018 2018
dbSNP: rs2273640
rs2273640
BTBD7 ; UNC79
1 14 93332875 synonymous variant G/A snv 0.22 0.16 0.700 1.000 1 2018 2018
dbSNP: rs2984348
rs2984348
CITED1 ; LOC105373250
2 X 72308510 intron variant C/T snv 0.31 0.700 1.000 1 2018 2018
dbSNP: rs34562254
rs34562254
TNFRSF13B
3 1.000 0.160 17 16939677 missense variant G/A snv 0.14 0.12 0.700 1.000 1 2018 2018
dbSNP: rs35397826
rs35397826
SLC16A6 ; ARSG
2 17 68273941 missense variant A/G snv 0.12 0.11 0.700 1.000 1 2018 2018
dbSNP: rs35487869
rs35487869
WDR72
1 15 53639111 intron variant C/A snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs39999
rs39999
NFAT5
1 16 69619793 intron variant C/G snv 0.89 0.700 1.000 1 2018 2018
dbSNP: rs4664048
rs4664048
SLC4A10
1 2 161725744 intron variant A/T snv 0.83 0.700 1.000 1 2018 2018
dbSNP: rs4919683
rs4919683
WBP1L
1 10 102825368 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs7113624
rs7113624
LOC107984361
2 11 87508051 regulatory region variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs7538978
rs7538978 		1 1 46039382 downstream gene variant G/A snv 0.66 0.700 1.000 1 2018 2018
dbSNP: rs7557395
rs7557395 		1 2 223648143 regulatory region variant A/G snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs79105258
rs79105258
CUX2
24 12 111280427 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs8022678
rs8022678 		2 14 98900353 intergenic variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs10136360
rs10136360
NRXN3
1 14 79427703 intron variant G/A snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs1036336
rs1036336
PLCL1
1 2 198099396 intron variant T/C snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs10457480
rs10457480 		1 6 126491463 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11584700
rs11584700
LOC105371692
1 1 204607855 intron variant A/G snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs11642015
rs11642015
FTO
9 0.925 0.120 16 53768582 intron variant C/T snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs11646118
rs11646118
KCTD13 ; ASPHD1
1 16 29915150 non coding transcript exon variant T/C snv 5.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs117287096
rs117287096 		1 19 40835508 intron variant G/A snv 1.9E-02 0.700 1.000 1 2019 2019