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: rs1057518844
rs1057518844
CREBBP
2 1.000 0.040 16 3757288 missense variant C/T snv 0.700 0
dbSNP: rs1057518956
rs1057518956
ZEB1
3 0.925 0.080 10 31520308 stop gained C/T snv 0.700 0
dbSNP: rs267607093
rs267607093
SRD5A3
14 0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs368869806
rs368869806
PTCH1
97 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs74315329
rs74315329
MYOC ; MYOCOS
15 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.800 1.000 11 1998 2019
dbSNP: rs74315330
rs74315330
MYOC ; MYOCOS
9 0.776 0.080 1 171636331 missense variant G/A snv 0.030 1.000 3 1998 2009
dbSNP: rs74315337
rs74315337
MYOC
2 0.925 0.040 1 171652476 stop gained G/A;C;T snv 7.2E-04; 4.0E-06; 4.0E-06 0.030 1.000 3 2000 2004
dbSNP: rs199752860
rs199752860
MYOC
2 0.925 0.040 1 171652578 missense variant C/G snv 6.9E-04 1.5E-04 0.010 1.000 1 2000 2000
dbSNP: rs2234927
rs2234927
MYOC ; MYOCOS
4 0.851 0.040 1 171638703 missense variant G/A;C snv 4.0E-06; 7.6E-04 0.010 1.000 1 2000 2000
dbSNP: rs199746824
rs199746824
MYOC
6 0.807 0.040 1 171652139 missense variant C/G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2001 2001
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2002 2002
dbSNP: rs566289099
rs566289099
MYOC ; MYOCOS
6 0.807 0.080 1 171636310 missense variant G/A snv 2.0E-05 3.5E-05 0.060 1.000 6 2003 2008
dbSNP: rs74315328
rs74315328
MYOC ; MYOCOS
6 0.807 0.120 1 171636131 missense variant A/G snv 0.050 1.000 5 2003 2019
dbSNP: rs11258194
rs11258194
OPTN
9 0.776 0.160 10 13110400 missense variant T/A snv 4.4E-02 6.0E-02 0.050 0.600 5 2004 2016
dbSNP: rs200710076
rs200710076
OPTN
2 0.925 0.040 10 13109198 missense variant C/A;G;T snv 8.0E-06; 2.0E-05; 2.4E-05 0.010 1.000 1 2004 2004
dbSNP: rs28939688
rs28939688
OPTN
7 0.807 0.040 10 13109270 missense variant G/A snv 0.060 1.000 6 2005 2019
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.050 0.600 5 2005 2018
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.040 0.500 4 2005 2018
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.040 0.500 4 2005 2018
dbSNP: rs74315339
rs74315339
MYOC
6 0.807 0.120 1 171652468 missense variant C/A snv 9.8E-04 1.3E-04 0.030 1.000 3 2005 2005
dbSNP: rs34595252
rs34595252
WDR36
2 0.925 0.040 5 111119021 missense variant A/G snv 4.3E-03 4.5E-03 0.020 1.000 2 2005 2006
dbSNP: rs116529882
rs116529882
WDR36
2 0.925 0.040 5 111110280 missense variant G/A snv 7.5E-04 8.9E-04 0.010 1.000 1 2005 2005
dbSNP: rs35703638
rs35703638
WDR36
1 1.000 0.040 5 111106140 missense variant G/A snv 8.3E-03 4.1E-03 0.010 1.000 1 2005 2005
dbSNP: rs553774660
rs553774660
TYR ; LOC107984363
1 1.000 0.040 11 89178097 missense variant G/T snv 0.010 1.000 1 2005 2005
dbSNP: rs79204362
rs79204362
CYP1B1
10 0.763 0.120 2 38071251 missense variant C/T snv 5.8E-03 1.7E-03 0.010 1.000 1 2005 2005