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: rs104894623
rs104894623
PMP22
4 0.851 0.200 17 15239591 missense variant C/G;T snv 0.800 1.000 4 1999 2004
dbSNP: rs104894626
rs104894626
PMP22
2 0.925 0.160 17 15259190 missense variant A/G snv 0.800 1.000 4 1999 2004
dbSNP: rs786205111
rs786205111
PMP22
1 1.000 0.160 17 15231045 inframe deletion TGTAGATGGCCG/- delins 0.700 0
dbSNP: rs797044846
rs797044846
PMP22
2 0.925 0.160 17 15259155 stop gained C/G;T snv 0.700 0
dbSNP: rs80338763
rs80338763
PMP22
4 0.851 0.200 17 15239509 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs879253954
rs879253954
PMP22
4 0.882 0.160 17 15230951 missense variant C/A;T snv 0.700 0
dbSNP: rs906563423
rs906563423
PMP22
2 0.925 0.160 17 15260660 missense variant G/A;C;T snv 2.5E-05 0.700 0