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: rs370189685
rs370189685
WDR4
1 21 42856322 intron variant G/C snv 9.1E-04 0.700 1.000 1 2017 2017
dbSNP: rs455489
rs455489
DSCAM
1 21 40567642 intron variant A/C snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs9981885
rs9981885 		1 21 18958319 intron variant A/C snv 0.22 0.700 1.000 1 2009 2009
dbSNP: rs1209523
rs1209523
FOXA2 ; LNCNEF
2 1.000 0.080 20 22587304 upstream gene variant C/T snv 0.14 0.700 1.000 2 2010 2019
dbSNP: rs17265513
rs17265513
ZHX3
6 0.925 0.160 20 41203988 missense variant T/C snv 0.14 0.14 0.800 1.000 2 2012 2015
dbSNP: rs6048216
rs6048216
LNCNEF
1 20 22600630 intron variant T/C snv 0.17 0.700 1.000 2 2015 2019
dbSNP: rs6113722
rs6113722
LINC00261
2 20 22576461 intron variant G/A;T snv 0.800 1.000 2 2012 2019
dbSNP: rs16993414
rs16993414 		1 20 7327891 intergenic variant T/C snv 2.4E-02 0.700 1.000 1 2009 2009
dbSNP: rs6048205
rs6048205
LINC00261
3 1.000 0.080 20 22578963 upstream gene variant A/G snv 9.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs6072275
rs6072275
TOP1 ; PLCG1-AS1
2 20 41115265 intron variant G/A snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs7273292
rs7273292 		2 20 21492724 upstream gene variant T/C snv 9.3E-03 0.700 1.000 1 2019 2019
dbSNP: rs10500292
rs10500292
SYMPK
2 19 45824675 intron variant C/T snv 0.46 0.700 1.000 1 2012 2012
dbSNP: rs11672660
rs11672660
GIPR ; MIR642B
5 19 45676926 intron variant C/T snv 0.18 0.17 0.700 1.000 1 2012 2012
dbSNP: rs16980051
rs16980051
SYMPK
2 19 45842628 non coding transcript exon variant T/A;C snv 0.47 0.700 1.000 1 2012 2012
dbSNP: rs2302593
rs2302593
SNRPD2 ; QPCTL
2 19 45693376 intron variant C/A;G snv 1.0E-04; 0.48 0.700 1.000 1 2012 2012
dbSNP: rs3729709
rs3729709
TNNI3
1 19 55156438 non coding transcript exon variant T/C snv 7.4E-02 0.700 1.000 1 2009 2009
dbSNP: rs118084662
rs118084662
DHRS7B
1 17 21169976 intron variant A/G snv 3.3E-04 0.700 1.000 1 2019 2019
dbSNP: rs11071657
rs11071657 		3 1.000 0.040 15 62141763 regulatory region variant A/G snv 0.31 0.700 1.000 1 2010 2010
dbSNP: rs12440695
rs12440695 		3 15 62142957 regulatory region variant T/C snv 0.32 0.700 1.000 1 2012 2012
dbSNP: rs17271340
rs17271340
VPS13C
2 15 62055686 intron variant C/T snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs2018860
rs2018860
IGF1R
3 0.925 0.120 15 98715481 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs2042608
rs2042608
VPS13C
2 15 61940181 intron variant C/A snv 0.48 0.700 1.000 1 2018 2018
dbSNP: rs4502156
rs4502156 		4 1.000 0.080 15 62090956 intergenic variant T/C snv 0.55 0.700 1.000 1 2012 2012
dbSNP: rs4775471
rs4775471 		2 15 62132450 intergenic variant C/T snv 0.18 0.700 1.000 1 2012 2012
dbSNP: rs7173964
rs7173964 		3 1.000 0.080 15 62104743 regulatory region variant G/A snv 0.49 0.700 1.000 1 2012 2012