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: rs104894369
rs104894369
MYL2
10 0.807 0.080 12 110914287 missense variant C/A;T snv 0.740 1.000 17 1998 2019
dbSNP: rs35049558
rs35049558
MYL2
8 0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06 0.040 1.000 4 2019 2019
dbSNP: rs397516408
rs397516408
MYL2
2 0.925 0.080 12 110919117 missense variant T/C snv 0.700 0
dbSNP: rs104894368
rs104894368
MYL2
4 0.882 0.080 12 110919133 stop gained C/A;G;T snv 4.0E-06; 8.0E-06; 2.0E-05 0.710 1.000 11 1996 2016
dbSNP: rs104894201
rs104894201
CRYAB
12 0.763 0.280 11 111908934 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs121918462
rs121918462
PTPN11
13 0.742 0.320 12 112450398 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs397507520
rs397507520
PTPN11
39 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
dbSNP: rs121918456
rs121918456
PTPN11
13 0.752 0.280 12 112473023 missense variant A/C;G snv 0.020 1.000 2 2011 2017
dbSNP: rs121918457
rs121918457
PTPN11
24 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.710 1.000 39 2002 2017
dbSNP: rs397507549
rs397507549
PTPN11
13 0.742 0.240 12 112489104 missense variant C/A;G snv 0.020 1.000 2 2009 2017
dbSNP: rs397507550
rs397507550
PTPN11
3 0.882 0.160 12 112489106 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs12341266
rs12341266
RGS3
1 1.000 0.040 9 113594236 missense variant A/C;G snv 0.93 0.700 1.000 1 2013 2013
dbSNP: rs1403543
rs1403543
AGTR2
2 1.000 0.040 X 116170939 intron variant G/A snv 0.48 0.010 1.000 1 2011 2011
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
9 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 0.710 0.833 6 2003 2013
dbSNP: rs199476398
rs199476398
MYOZ2 ; LOC105379404
2 0.925 0.040 4 119150937 missense variant T/C snv 0.020 1.000 2 2007 2013
dbSNP: rs140126678
rs140126678
MYOZ2
2 0.925 0.040 4 119186143 missense variant A/G snv 2.1E-03 2.1E-03 0.020 1.000 2 2007 2013
dbSNP: rs104894858
rs104894858
LAMP2
2 0.925 0.160 X 120442599 missense variant C/T snv 0.700 1.000 5 2005 2009
dbSNP: rs727503118
rs727503118
LAMP2
2 0.925 0.160 X 120442650 stop gained G/A;T snv 9.8E-05 0.700 1.000 3 2010 2012
dbSNP: rs397516752
rs397516752
LAMP2
1 1.000 0.040 X 120442663 splice acceptor variant C/G snv 0.700 0
dbSNP: rs397516751
rs397516751
LAMP2
2 0.925 0.160 X 120446299 splice donor variant TCAC/- delins 0.700 0
dbSNP: rs397516739
rs397516739
LAMP2
1 1.000 0.040 X 120455536 frameshift variant -/T delins 5.5E-06 0.700 0
dbSNP: rs397516738
rs397516738
LAMP2
1 1.000 0.040 X 120455563 frameshift variant A/- del 0.700 0
dbSNP: rs727503120
rs727503120
LAMP2
2 0.925 0.160 X 120456650 splice donor variant C/T snv 0.700 0
dbSNP: rs397516736
rs397516736
LAMP2
1 1.000 0.040 X 120456651 stop gained A/C;G;T snv 1.9E-05 0.700 0
dbSNP: rs730880344
rs730880344
LAMP2
2 0.925 0.160 X 120456704 frameshift variant -/TA delins 0.700 0