Gene: PMP22 ×
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: rs864622180
rs864622180
PMP22
2 0.925 0.080 17 15259134 frameshift variant G/- delins 0.700 1.000 1 2014 2014
dbSNP: rs104894619
rs104894619
PMP22
9 0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03 0.040 1.000 4 2003 2011
dbSNP: rs104894621
rs104894621
PMP22
9 0.790 0.080 17 15239575 missense variant G/A snv 0.020 1.000 2 2004 2009
dbSNP: rs104894617
rs104894617
PMP22
4 0.851 0.080 17 15260681 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs104894623
rs104894623
PMP22
4 0.851 0.200 17 15239591 missense variant C/G;T snv 0.010 1.000 1 2002 2002
dbSNP: rs1482355069
rs1482355069
PMP22
1 1.000 0.080 17 15259155 frameshift variant C/- delins 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs786205112
rs786205112
PMP22
1 1.000 0.080 17 15239509 frameshift variant C/-;CC delins 0.010 < 0.001 1 2013 2013
dbSNP: rs797044846
rs797044846
PMP22
2 0.925 0.160 17 15259155 stop gained C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs879253954
rs879253954
PMP22
4 0.882 0.160 17 15230951 missense variant C/A;T snv 0.010 1.000 1 2014 2014