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: rs2236405
rs2236405
PTCH1
1 1.000 0.080 9 95449290 missense variant T/A snv 3.4E-02 4.7E-02 0.010 1.000 1 2013 2013
dbSNP: rs357565
rs357565
PTCH1
1 1.000 0.080 9 95443161 3 prime UTR variant C/A snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs139392904
rs139392904
NTRK3
1 1.000 0.080 15 87929391 missense variant G/A snv 8.0E-04 5.6E-04 0.010 1.000 1 2009 2009
dbSNP: rs12428625
rs12428625 		2 0.925 0.080 13 86134644 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs14242
rs14242
VAMP5 ; RNF181
1 1.000 0.080 2 85593289 3 prime UTR variant C/T snv 8.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs1254900
rs1254900
VAMP5
4 0.851 0.120 2 85589211 intron variant A/G snv 0.81 0.020 1.000 2 2016 2018
dbSNP: rs10206961
rs10206961
VAMP5
2 0.925 0.080 2 85587861 intron variant C/T snv 0.53 0.020 1.000 2 2016 2018
dbSNP: rs141893504
rs141893504
SEMA3D
1 1.000 0.080 7 85022533 missense variant G/T snv 4.0E-03 4.2E-03 0.700 0
dbSNP: rs1583147
rs1583147 		1 1.000 0.080 7 84841891 regulatory region variant C/T snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs12707682
rs12707682 		1 1.000 0.080 7 84814040 intergenic variant T/C snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs80227144
rs80227144 		2 0.925 0.080 7 84720526 regulatory region variant C/A snv 2.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs117617821
rs117617821 		2 0.925 0.080 7 84692873 intergenic variant T/C snv 2.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs62472985
rs62472985
LOC101927378
2 0.925 0.080 7 84567995 intron variant C/G snv 0.10 0.700 1.000 1 2018 2018
dbSNP: rs11766001
rs11766001
SEMA3A
1 1.000 0.080 7 84515886 intergenic variant A/C snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs7804122
rs7804122
SEMA3A
2 0.925 0.120 7 84005397 synonymous variant A/G snv 0.24 0.24 0.010 1.000 1 2012 2012
dbSNP: rs797821
rs797821
SEMA3A
1 1.000 0.080 7 83961536 synonymous variant T/C snv 0.62 0.58 0.010 1.000 1 2012 2012
dbSNP: rs6584400
rs6584400
NRG3
6 0.851 0.120 10 81896770 intron variant G/A snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs10748842
rs10748842
NRG3
8 0.807 0.120 10 81889983 intron variant T/C snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs10883866
rs10883866
NRG3
3 0.882 0.160 10 81883883 intron variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs724373
rs724373
NRXN3
2 0.925 0.120 14 78476555 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs7157669
rs7157669
NRXN3
2 0.925 0.120 14 78471334 intron variant C/A snv 9.5E-02 0.010 1.000 1 2018 2018
dbSNP: rs142569954
rs142569954
EDNRB
3 0.882 0.160 13 77918396 missense variant C/G;T snv 4.1E-06; 2.1E-05 0.020 1.000 2 2003 2007
dbSNP: rs780355308
rs780355308
EDNRB
1 1.000 0.080 13 77918263 missense variant T/A;C snv 2.4E-05 0.010 1.000 1 1998 1998
dbSNP: rs5348
rs5348
EDNRB ; EDNRB-AS1
1 1.000 0.080 13 77903539 synonymous variant A/G;T snv 1.00 0.010 1.000 1 2007 2007
dbSNP: rs5349
rs5349
EDNRB ; EDNRB-AS1
3 0.882 0.160 13 77903530 synonymous variant G/A snv 5.5E-03 1.1E-02 0.020 1.000 2 2003 2007