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: rs137854464
rs137854464
FBN1
5 0.851 0.200 15 48425483 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1553196515
rs1553196515
COL11A1
1 1 102898938 splice region variant T/A snv 0.700 0
dbSNP: rs1554787779
rs1554787779
COL5A1
1 9 134728724 frameshift variant G/- del 0.700 0
dbSNP: rs1555167139
rs1555167139
COL2A1
1 12 47985937 missense variant C/T snv 0.700 0
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
14 0.752 0.280 10 88941309 missense variant C/T snv 0.700 0
dbSNP: rs563606558
rs563606558
COL5A2
1 2 189179604 start lost T/C snv 3.4E-05 1.4E-05 0.700 0
dbSNP: rs730880214
rs730880214
SMAD3
1 15 67181442 missense variant G/A snv 0.700 0
dbSNP: rs745672741
rs745672741
SMAD3
2 1.000 15 67165247 splice region variant G/A;C snv 0.700 0
dbSNP: rs756434709
rs756434709
NOTCH1
2 9 136514670 missense variant C/T snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs863223852
rs863223852
TGFBR2
4 0.882 0.120 3 30688476 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs35705950
rs35705950 		14 0.763 0.240 11 1219991 splice region variant G/A;T snv 0.030 1.000 3 2015 2019
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2015 2015
dbSNP: rs121964971
rs121964971
CBS
5 0.851 0.160 21 43058215 missense variant G/A snv 1.2E-05 0.010 1.000 1 2002 2002
dbSNP: rs137854468
rs137854468
FBN1
6 0.851 0.160 15 48487396 missense variant C/T snv 0.010 1.000 1 2001 2001
dbSNP: rs1443187318
rs1443187318
AEBP1
14 0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05 0.010 1.000 1 2019 2019
dbSNP: rs1800012
rs1800012
COL1A1
13 0.763 0.320 17 50200388 intron variant C/A snv 0.14 0.010 1.000 1 2009 2009
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2018 2018
dbSNP: rs2280883
rs2280883
FOXP3
9 0.827 0.280 X 49252667 intron variant T/C snv 0.30 0.010 1.000 1 2018 2018
dbSNP: rs28940289
rs28940289
ETHE1
2 1.000 0.200 19 43511455 missense variant G/A;C snv 2.4E-05 3.5E-05 0.010 1.000 1 2006 2006
dbSNP: rs3856806
rs3856806
PPARG
41 0.637 0.440 3 12434058 synonymous variant C/T snv 0.13 0.11 0.010 1.000 1 2018 2018
dbSNP: rs4994
rs4994
ADRB3
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.010 1.000 1 2018 2018
dbSNP: rs5743890
rs5743890
TOLLIP
4 0.925 0.040 11 1304599 intron variant T/C snv 9.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs776746
rs776746
CYP3A5 ; ZSCAN25
21 0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72 0.010 1.000 1 2014 2014