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: rs137854858
rs137854858
LTBP2
1 1.000 0.040 14 74551266 missense variant C/A;T snv 1.3E-05; 2.1E-05 0.700 0
dbSNP: rs137854860
rs137854860
LTBP2
1 1.000 0.040 14 74502911 missense variant C/G;T snv 4.0E-06; 1.3E-04 0.700 0
dbSNP: rs137854863
rs137854863
LTBP2
1 1.000 0.040 14 74505102 missense variant T/C snv 6.8E-05 7.0E-06 0.700 0
dbSNP: rs1553534421
rs1553534421
FASTKD1
2 0.925 0.040 2 169531449 missense variant A/T snv 0.700 0
dbSNP: rs1555954284
rs1555954284
DDX3X
24 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
dbSNP: rs1564354968
rs1564354968
OPTN
3 0.882 0.040 10 13109279 frameshift variant -/AGCT delins 0.700 0
dbSNP: rs878854408
rs878854408
MYOC ; MYOCOS
1 1.000 0.040 1 171636329 missense variant A/G snv 0.700 0
dbSNP: rs1057519378
rs1057519378
CARD10
1 1.000 0.040 22 37516037 missense variant C/A;T snv 4.4E-06; 8.7E-06 0.700 1.000 1 2016 2016
dbSNP: rs139006752
rs139006752
CARD10
1 1.000 0.040 22 37508609 missense variant G/A snv 1.7E-03 1.4E-03 0.700 1.000 1 2016 2016
dbSNP: rs200148764
rs200148764
CARD10
1 1.000 0.040 22 37508568 missense variant C/T snv 2.7E-04 1.7E-04 0.700 1.000 1 2016 2016
dbSNP: rs201794655
rs201794655
CARD10
1 1.000 0.040 22 37492794 missense variant G/A snv 2.1E-04 2.0E-04 0.700 1.000 1 2016 2016
dbSNP: rs750643216
rs750643216
CARD10
1 1.000 0.040 22 37506365 missense variant G/A snv 3.3E-05 5.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs10012
rs10012
CYP1B1 ; CYP1B1-AS1
16 0.716 0.280 2 38075247 missense variant G/C snv 0.31 0.36 0.010 < 0.001 1 2015 2015
dbSNP: rs10038177
rs10038177
WDR36
3 0.925 0.040 5 111100751 intron variant C/T snv 0.53 0.54 0.010 1.000 1 2017 2017
dbSNP: rs10063949
rs10063949
SLC23A1
4 0.882 0.080 5 139383837 intron variant T/C snv 0.48 0.010 < 0.001 1 2011 2011
dbSNP: rs1011970
rs1011970
CDKN2B-AS1
22 0.677 0.320 9 22062135 intron variant G/T snv 0.23 0.010 1.000 1 2014 2014
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 < 0.001 1 2003 2003
dbSNP: rs10451941
rs10451941
OPA1
3 0.882 0.160 3 193637313 intron variant T/A;C snv 0.42 0.010 < 0.001 1 2017 2017
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2016 2016
dbSNP: rs104886478
rs104886478
ASB10
2 0.925 0.040 7 151181233 synonymous variant G/A snv 5.0E-04 3.3E-04 0.010 1.000 1 2012 2012
dbSNP: rs1051993
rs1051993
AGER ; PBX2
1 1.000 0.040 6 32185657 3 prime UTR variant C/A snv 5.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2013 2013
dbSNP: rs1052990
rs1052990
CAV2
3 0.882 0.040 7 116508316 3 prime UTR variant T/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2008 2008
dbSNP: rs1056837
rs1056837
CYP1B1
1 1.000 0.040 2 38071007 missense variant A/G;T snv 0.63 0.010 < 0.001 1 2015 2015