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: rs878855092
rs878855092
SH3TC2
1 1.000 0.080 5 149027642 frameshift variant TGTTGCTGGACAGAGGCCA/- delins 0.700 0
dbSNP: rs864622664
rs864622664
SH3TC2
2 0.925 0.080 5 149010294 frameshift variant C/- delins 7.0E-06 0.700 0
dbSNP: rs864622663
rs864622663
SH3TC2
1 1.000 0.080 5 149047930 stop gained G/A snv 4.0E-06; 4.0E-06 1.4E-05 0.700 0
dbSNP: rs863224520
rs863224520
SH3TC2
1 1.000 0.080 5 149028070 frameshift variant G/- delins 0.700 0
dbSNP: rs863224516
rs863224516
MTMR2
1 1.000 0.080 11 95847859 frameshift variant T/- delins 0.700 0
dbSNP: rs863224454
rs863224454
SH3TC2
2 0.925 0.080 5 149028145 missense variant AC/CT mnv 0.700 1.000 6 2003 2017
dbSNP: rs80359890
rs80359890
SH3TC2
4 0.851 0.080 5 149042718 missense variant A/G snv 1.6E-03; 4.0E-06 2.0E-03 0.700 0
dbSNP: rs80338934
rs80338934
SH3TC2
4 0.882 0.080 5 149010272 stop gained G/A snv 4.0E-05 3.5E-05 0.710 1.000 5 2005 2016
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 0.700 1.000 1 2008 2008
dbSNP: rs80338931
rs80338931
SH3TC2
2 0.925 0.080 5 149027022 stop gained G/A snv 4.4E-05 2.8E-05 0.700 1.000 3 2006 2015
dbSNP: rs80338930
rs80338930
SH3TC2
2 0.925 0.080 5 149027090 missense variant T/A;C snv 2.0E-05 0.700 1.000 5 2006 2013
dbSNP: rs80338926
rs80338926
SH3TC2
2 0.925 0.080 5 149027760 missense variant G/A;T snv 2.4E-05; 4.0E-06 0.700 1.000 4 2003 2011
dbSNP: rs80338925
rs80338925
SH3TC2
2 0.925 0.080 5 149027763 missense variant C/T snv 2.4E-05 0.700 0
dbSNP: rs778377449
rs778377449
FGD4
1 1.000 0.080 12 32625747 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs776221160
rs776221160
SH3TC2
1 1.000 0.080 5 149047862 splice region variant C/T snv 1.2E-05 2.8E-05 0.700 1.000 2 2011 2016
dbSNP: rs774667470
rs774667470
SBF2
1 1.000 0.080 11 9832350 stop gained G/A snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs773554464
rs773554464
SH3TC2
1 1.000 0.080 5 149044531 splice donor variant A/G snv 4.0E-06 0.700 1.000 2 2010 2016
dbSNP: rs772320287
rs772320287
FIG4
1 1.000 0.080 6 109766807 frameshift variant -/A delins 8.0E-06 7.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs770043095
rs770043095
FIG4
1 1.000 0.080 6 109762188 frameshift variant -/T delins 2.0E-05 2.1E-05 0.700 0
dbSNP: rs769410348
rs769410348
SH3TC2
1 1.000 0.080 5 149042693 splice donor variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs764717219
rs764717219
FIG4
3 0.882 0.120 6 109738435 frameshift variant G/- delins 3.2E-05 1.4E-05 0.700 1.000 2 2007 2011
dbSNP: rs761972717
rs761972717
SH3TC2
1 1.000 0.080 5 149006960 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs757563721
rs757563721
MTMR2
1 1.000 0.080 11 95849835 stop gained G/A;T snv 0.700 0
dbSNP: rs752649372
rs752649372
SBF2
1 1.000 0.080 11 9989597 splice acceptor variant T/C snv 4.1E-06 0.700 1.000 2 2003 2014
dbSNP: rs752192677
rs752192677
PRX
1 1.000 0.080 19 40398770 stop gained G/A;C snv 8.1E-06; 1.2E-05 0.700 1.000 1 2014 2014