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: rs3918188
rs3918188
NOS3
10 0.776 0.280 7 151005693 intron variant C/A;T snv 0.020 < 0.001 2 2011 2011
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: 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: 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: 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
dbSNP: rs111698934
rs111698934
FNDC3B
1 1.000 0.040 3 172315221 intron variant C/G snv 5.7E-03 0.010 < 0.001 1 2019 2019
dbSNP: rs112983858
rs112983858
CD48
1 1.000 0.040 1 160681172 frameshift variant C/-;CC;CCC delins 5.2E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs11536889
rs11536889
TLR4
27 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 0.010 < 0.001 1 2017 2017
dbSNP: rs11720822
rs11720822
PDIA5
3 0.882 0.040 3 123150194 intron variant C/T snv 8.6E-02 6.6E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs12025126
rs12025126
RERE
2 0.925 0.040 1 8699495 intron variant T/C snv 0.26 0.010 < 0.001 1 2012 2012
dbSNP: rs12436579
rs12436579 		1 1.000 0.040 14 60516369 intron variant C/A;G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs1255428605
rs1255428605
OPA1 ; LOC102724808
1 1.000 0.040 3 193647160 missense variant A/G snv 7.0E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs166850
rs166850
OPA1
2 0.925 0.160 3 193637285 splice region variant T/A;C snv 0.87 0.010 < 0.001 1 2017 2017
dbSNP: rs1800888
rs1800888
ADRB2
23 0.695 0.400 5 148827322 missense variant C/T snv 9.1E-03 9.1E-03 0.010 < 0.001 1 2003 2003
dbSNP: rs1926320
rs1926320
DCLK1
2 0.925 0.040 13 36078480 intron variant T/C snv 0.27 0.010 < 0.001 1 2012 2012
dbSNP: rs2156323
rs2156323
VAV2
3 0.882 0.040 9 133855699 intron variant G/A snv 9.2E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs2567206
rs2567206
CYP1B1 ; CYP1B1-AS1
7 0.827 0.200 2 38076389 non coding transcript exon variant G/A snv 0.23 0.010 < 0.001 1 2012 2012