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: 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: rs863224454
rs863224454
SH3TC2
2 0.925 0.080 5 149028145 missense variant AC/CT mnv 0.700 1.000 6 2003 2017
dbSNP: rs104894715
rs104894715
PRX
1 1.000 0.080 19 40397250 stop gained G/A;C snv 4.0E-06; 4.0E-06 0.700 1.000 5 2001 2016
dbSNP: rs121908287
rs121908287
FIG4
3 0.882 0.120 6 109715133 missense variant T/C snv 9.8E-04 1.1E-03 0.700 1.000 5 2007 2014
dbSNP: rs1568704829
rs1568704829
PRX
1 1.000 0.080 19 40395498 frameshift variant -/A delins 0.700 1.000 5 2004 2016
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: rs1301129751
rs1301129751
PRX
1 1.000 0.080 19 40395337 frameshift variant -/A ins 8.0E-06 7.0E-06 0.700 1.000 4 2004 2016
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: rs1564872328
rs1564872328
SBF2 ; SBF2-AS1
1 1.000 0.080 11 9807999 splice donor variant C/T snv 0.700 1.000 3 2003 2014
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: rs104894708
rs104894708
PRX
5 0.851 0.120 19 40395144 stop gained G/A snv 8.0E-06 0.700 1.000 2 2004 2004
dbSNP: rs104894714
rs104894714
PRX
2 0.925 0.080 19 40395495 stop gained G/A snv 3.2E-05 0.700 1.000 2 2001 2004
dbSNP: rs1060503092
rs1060503092
NDRG1
1 1.000 0.080 8 133264546 splice donor variant C/T snv 7.0E-06 0.700 1.000 2 2003 2013
dbSNP: rs1554309093
rs1554309093
FIG4
1 1.000 0.080 6 109792591 stop gained C/T snv 0.700 1.000 2 2014 2017
dbSNP: rs574861276
rs574861276
PRX
1 1.000 0.080 19 40396962 stop gained G/A;C snv 4.0E-06; 4.0E-06 0.700 1.000 2 2002 2017
dbSNP: rs63749871
rs63749871
FGD4
2 0.925 0.080 12 32602217 missense variant T/C;G snv 4.0E-06 0.700 1.000 2 2007 2007
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: 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: 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: 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: rs104894707
rs104894707
PRX
4 0.882 0.080 19 40396207 stop gained A/T snv 8.0E-06 5.6E-05 0.700 1.000 1 2002 2002
dbSNP: rs121434402
rs121434402
MTMR2
2 0.925 0.080 11 95845063 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 1 2000 2000
dbSNP: rs1554120331
rs1554120331
SH3TC2
1 1.000 0.080 5 149009002 splice acceptor variant C/A snv 0.700 1.000 1 2010 2010
dbSNP: rs1554122560
rs1554122560
SH3TC2
1 1.000 0.080 5 149038491 splice acceptor variant C/T snv 0.700 1.000 1 2010 2010
dbSNP: rs1554300952
rs1554300952
FIG4
1 1.000 0.080 6 109735148 splice acceptor variant A/G snv 0.700 1.000 1 2013 2013