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: 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: rs1568704829
rs1568704829
PRX
1 1.000 0.080 19 40395498 frameshift variant -/A delins 0.700 1.000 5 2004 2016
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: 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: 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: 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: 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: 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
dbSNP: rs1555060614
rs1555060614
MTMR2
1 1.000 0.080 11 95849673 splice donor variant C/T snv 0.700 1.000 1 2000 2000
dbSNP: rs1555061026
rs1555061026
MTMR2
1 1.000 0.080 11 95850598 splice donor variant A/C snv 0.700 1.000 1 2000 2000
dbSNP: rs1561765311
rs1561765311
SH3TC2
1 1.000 0.080 5 149028209 frameshift variant AAAC/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1565351898
rs1565351898
MTMR2
1 1.000 0.080 11 95850599 splice donor variant C/G snv 0.700 1.000 1 2000 2000
dbSNP: rs1568710514
rs1568710514
PRX
1 1.000 0.080 19 40398648 frameshift variant T/- delins 0.700 1.000 1 2002 2002
dbSNP: rs750712213
rs750712213
FIG4
1 1.000 0.080 6 109791478 frameshift variant CT/- delins 1.6E-05 2.1E-05 0.700 1.000 1 2013 2013
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
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: 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: rs1060499999
rs1060499999
SBF2 ; SBF2-AS1
1 1.000 0.080 11 9787633 splice donor variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1060500001
rs1060500001
SBF2 ; LOC101928008
1 1.000 0.080 11 9853539 splice donor variant C/T snv 0.700 0
dbSNP: rs1198337036
rs1198337036
SH3TC2
1 1.000 0.080 5 149047861 splice donor variant C/T snv 8.0E-06 7.0E-06 0.700 0