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: rs104894625
rs104894625
PMP22
4 0.851 0.120 17 15260663 missense variant G/A;T snv 0.810 1.000 14 1992 2004
dbSNP: rs104894617
rs104894617
PMP22
4 0.851 0.080 17 15260681 missense variant A/G snv 0.800 1.000 14 1992 2004
dbSNP: rs104894618
rs104894618
PMP22
1 1.000 0.080 17 15239554 missense variant G/C snv 0.800 1.000 14 1992 2004
dbSNP: rs104894619
rs104894619
PMP22
9 0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03 0.710 1.000 15 1992 2004
dbSNP: rs104894621
rs104894621
PMP22
9 0.790 0.080 17 15239575 missense variant G/A snv 0.700 1.000 14 1992 2004
dbSNP: rs104894627
rs104894627
PMP22
2 0.925 0.080 17 15259162 missense variant T/A snv 0.700 1.000 14 1992 2004
dbSNP: rs778693173
rs778693173
PMP22
1 1.000 0.080 17 15239513 missense variant C/G;T snv 4.0E-05; 4.0E-06 0.700 1.000 14 1992 2004
dbSNP: rs80338763
rs80338763
PMP22
4 0.851 0.200 17 15239509 frameshift variant C/-;CC delins 0.700 1.000 2 1997 1997
dbSNP: rs863225029
rs863225029
PMP22
2 0.925 0.080 17 15230966 frameshift variant A/- del 4.0E-06 0.700 1.000 2 2010 2011
dbSNP: rs10910527
rs10910527
SIPA1L2
1 1.000 0.080 1 232463443 intron variant C/T snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs11067360
rs11067360 		1 1.000 0.080 12 114999802 regulatory region variant G/T snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs12137595
rs12137595 		5 0.851 0.080 1 4034008 regulatory region variant C/T snv 8.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs16967483
rs16967483 		1 1.000 0.080 18 22465491 regulatory region variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs17629990
rs17629990 		2 1.000 0.080 4 170302895 intergenic variant G/A snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs2249498
rs2249498
DSCAM
2 1.000 0.080 21 40059947 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs303143
rs303143
SPATA5
1 1.000 0.080 4 123234042 intron variant A/G snv 2.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs4713376
rs4713376
LINC00243
1 1.000 0.080 6 30805537 intron variant A/C snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs7720606
rs7720606 		2 1.000 0.080 5 127216040 intron variant A/G snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs8046213
rs8046213
LITAF
1 1.000 0.080 16 11609202 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs863225027
rs863225027
PMP22
3 0.882 0.120 17 15239555 missense variant A/T snv 0.700 1.000 1 2011 2011
dbSNP: rs104894519
rs104894519
LITAF
3 0.882 0.080 16 11553576 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1390851365
rs1390851365
CHCHD2
1 1.000 0.080 7 56102976 missense variant C/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs2292832
rs2292832
GPC1 ; MIR149 ; LOC100130449
46 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 0.010 1.000 1 2018 2018
dbSNP: rs4280262
rs4280262
LITAF
2 0.925 0.120 16 11553636 missense variant T/C snv 0.17 0.16 0.010 1.000 1 2015 2015