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: rs267607143
rs267607143
TRPV4
5 0.851 0.080 12 109798823 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs267607144
rs267607144
TRPV4
17 0.716 0.360 12 109800665 missense variant C/T snv 0.700 0
dbSNP: rs267607145
rs267607145
TRPV4
4 0.882 0.080 12 109798820 missense variant G/A;T snv 0.700 0
dbSNP: rs267607146
rs267607146
TRPV4
5 0.851 0.080 12 109800666 missense variant G/A;T snv 7.0E-06 0.700 0
dbSNP: rs207482230
rs207482230
TFG
5 0.882 0.080 3 100748182 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs587777789
rs587777789
TFG
3 0.882 0.080 3 100744917 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1424992190
rs1424992190
SYVN1
1 1.000 0.080 11 65132333 missense variant C/T snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs80338933
rs80338933
SH3TC2
9 0.807 0.080 5 149026872 stop gained G/A snv 7.5E-04; 4.0E-06 6.6E-04 0.710 1.000 5 2003 2014
dbSNP: rs1554122541
rs1554122541
SH3TC2
1 1.000 0.080 5 149038339 frameshift variant G/- del 0.700 1.000 1 2014 2014
dbSNP: rs749850181
rs749850181
SH3TC2
1 1.000 0.080 5 149028348 stop gained C/A snv 1.2E-05 0.700 1.000 1 2014 2014
dbSNP: rs80338934
rs80338934
SH3TC2
4 0.882 0.080 5 149010272 stop gained G/A snv 4.0E-05 3.5E-05 0.010 1.000 1 2013 2013
dbSNP: rs864622664
rs864622664
SH3TC2
2 0.925 0.080 5 149010294 frameshift variant C/- delins 7.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs690016543
rs690016543
SBF1
2 0.925 0.080 22 50465006 missense variant C/T snv 0.700 0
dbSNP: rs104894706
rs104894706
PRX
2 0.925 0.080 19 40397766 stop gained G/A;C;T snv 0.010 1.000 1 2001 2001
dbSNP: rs104894707
rs104894707
PRX
4 0.882 0.080 19 40396207 stop gained A/T snv 8.0E-06 5.6E-05 0.010 1.000 1 2002 2002
dbSNP: rs144183238
rs144183238
PRX
1 1.000 0.080 19 40397262 stop gained G/A snv 4.0E-05 4.9E-05 0.010 1.000 1 2011 2011
dbSNP: rs121918054
rs121918054
POLG
8 0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs780953863
rs780953863
POLG
1 1.000 0.080 15 89329040 missense variant C/T snv 1.6E-05 7.0E-06 0.010 1.000 1 2019 2019
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