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: rs1017715903
rs1017715903
MPZ
2 1.000 0.080 1 161306854 stop gained C/T snv 0.700 0
dbSNP: rs104894159
rs104894159
EGR2
5 0.827 0.080 10 62813413 missense variant G/A snv 0.700 0
dbSNP: rs104894519
rs104894519
LITAF
3 0.882 0.080 16 11553576 missense variant C/T snv 0.700 0
dbSNP: rs104894520
rs104894520
LITAF
2 0.925 0.080 16 11553566 missense variant G/T snv 0.700 0
dbSNP: rs104894521
rs104894521
LITAF
2 0.925 0.080 16 11553564 missense variant A/C snv 0.700 0
dbSNP: rs104894622
rs104894622
PMP22
3 0.882 0.080 17 15260692 missense variant G/T snv 0.700 0
dbSNP: rs104894623
rs104894623
PMP22
4 0.851 0.200 17 15239591 missense variant C/G;T snv 0.700 0
dbSNP: rs104894624
rs104894624
PMP22
2 0.925 0.080 17 15230952 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs104894625
rs104894625
PMP22
4 0.851 0.120 17 15260663 missense variant G/A;T snv 0.700 0
dbSNP: rs104894626
rs104894626
PMP22
2 0.925 0.160 17 15259190 missense variant A/G snv 0.700 0
dbSNP: rs1182353109
rs1182353109
MPZ
1 1.000 0.080 1 161306725 frameshift variant A/- del 7.0E-06 0.700 0
dbSNP: rs121913586
rs121913586
MPZ
10 0.752 0.200 1 161306414 missense variant C/G;T snv 0.700 0
dbSNP: rs121913588
rs121913588
MPZ
2 0.925 0.080 1 161306747 missense variant C/T snv 0.700 0
dbSNP: rs121913594
rs121913594
MPZ
3 0.882 0.080 1 161306914 missense variant T/C snv 0.700 0
dbSNP: rs121913596
rs121913596
MPZ
4 0.851 0.080 1 161307389 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs121913603
rs121913603
MPZ
12 0.732 0.160 1 161306722 missense variant T/C;G snv 2.0E-05 0.700 0
dbSNP: rs1553259511
rs1553259511
MPZ
1 1.000 0.080 1 161305976 frameshift variant -/T delins 0.700 0
dbSNP: rs1553259651
rs1553259651
MPZ
1 1.000 0.080 1 161306772 stop gained -/TCAC delins 0.700 0
dbSNP: rs1553259662
rs1553259662
MPZ
7 0.827 0.200 1 161306821 missense variant A/G snv 0.700 0
dbSNP: rs1555568475
rs1555568475
PMP22
1 1.000 0.080 17 15259189 stop gained C/T snv 0.700 0
dbSNP: rs1558154754
rs1558154754
MPZ
1 1.000 0.080 1 161307415 frameshift variant G/- delins 0.700 0
dbSNP: rs267607244
rs267607244
MPZ
2 0.925 0.080 1 161306890 missense variant A/G;T snv 4.0E-06 0.700 0
dbSNP: rs281865134
rs281865134
LITAF
1 1.000 0.080 16 11553578 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs281865135
rs281865135
LITAF
1 1.000 0.080 16 11549720 missense variant G/A;T snv 0.700 0
dbSNP: rs281865136
rs281865136
EGR2
3 0.882 0.120 10 62813562 missense variant C/T snv 0.700 0