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: rs10088648
rs10088648
NRG1
1 1.000 8 32523319 intron variant A/T snv 0.56 0.700 1.000 1 2017 2017
dbSNP: rs10886040
rs10886040
SHTN1
3 0.882 0.120 10 117086783 intron variant C/G snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs1109430
rs1109430 		1 1.000 1 209819156 intergenic variant G/A snv 3.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs11841646
rs11841646 		3 0.882 0.120 13 80105167 intergenic variant T/A;G snv 0.42 0.700 1.000 1 2017 2017
dbSNP: rs12070337
rs12070337 		1 1.000 1 209818782 intergenic variant G/A snv 0.21 0.700 1.000 1 2017 2017
dbSNP: rs12347191
rs12347191 		1 1.000 9 97857437 upstream gene variant C/T snv 0.63 0.700 1.000 1 2017 2017
dbSNP: rs12543318
rs12543318 		4 0.882 0.120 8 87856112 intergenic variant C/A snv 0.68 0.700 1.000 1 2017 2017
dbSNP: rs12944377
rs12944377
NTN1
3 0.882 0.120 17 9044391 intron variant T/C snv 0.36 0.700 1.000 1 2017 2017
dbSNP: rs17242358
rs17242358
CCDC26 ; LINC00976
1 1.000 8 128952627 intron variant G/A snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs1898349
rs1898349
SHTN1
1 1.000 10 117057556 intron variant C/T snv 0.26 0.700 1.000 1 2017 2017
dbSNP: rs3789432
rs3789432
ABCA4
2 0.925 0.080 1 94109752 intron variant T/C snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs6029258
rs6029258 		3 0.882 0.120 20 40656135 intergenic variant G/A snv 0.58 0.700 1.000 1 2017 2017
dbSNP: rs6072081
rs6072081
LOC102724968
4 0.851 0.120 20 40632414 intergenic variant A/G snv 0.49 0.700 1.000 1 2017 2017
dbSNP: rs6504622
rs6504622
GOSR2 ; LRRC37A2
1 1.000 17 46942365 intron variant T/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs66515264
rs66515264
ABCA4
3 0.882 0.120 1 94092554 intron variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs72728734
rs72728734
CCDC26
3 0.882 0.120 8 128921474 intron variant A/G snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs7566780
rs7566780 		3 0.882 0.120 2 16548089 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs76479869
rs76479869
TP63
3 0.882 0.120 3 189835583 intron variant C/T snv 4.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs9439713
rs9439713
PAX7
3 0.882 0.120 1 18646282 intron variant G/A snv 0.31 0.700 1.000 1 2017 2017
dbSNP: rs9439714
rs9439714
PAX7
3 0.882 0.120 1 18649995 intron variant T/C snv 0.28 0.700 1.000 1 2017 2017
dbSNP: rs199469464
rs199469464
SRCAP
8 0.807 0.200 16 30737370 stop gained C/T snv 0.700 0
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs147680216
rs147680216
WNT10A
11 0.742 0.160 2 218890244 missense variant G/A snv 2.1E-03 6.9E-04 0.010 1.000 1 2019 2019
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2020 2020
dbSNP: rs1801198
rs1801198
TCN2
26 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 0.010 1.000 1 2020 2020