Source: BEFREE ×
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
3 0.851 0.120 17 15260663 missense variant G/A;T snv 0.810 1.000 1 1992 2004
dbSNP: rs104894619
rs104894619
PMP22
8 0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03 0.710 1.000 1 1992 2004
dbSNP: rs104894519
rs104894519
LITAF
2 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