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: rs10199956
rs10199956
RAMP1
1 1.000 0.040 2 237907946 intron variant T/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1043210477
rs1043210477
GPX1
19 0.701 0.520 3 49358250 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs1047047
rs1047047
GUCA2B
1 1.000 0.040 1 42153468 synonymous variant A/C;G;T snv 6.4E-05; 0.21; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1047303
rs1047303
HSD3B1
4 0.851 0.120 1 119514623 missense variant C/A snv 0.75 0.010 1.000 1 2010 2010
dbSNP: rs1048829
rs1048829
BMPR2
4 0.925 0.080 2 202565733 3 prime UTR variant T/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs10719
rs10719
DROSHA
24 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 0.010 1.000 1 2017 2017
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2010 2010
dbSNP: rs11556924
rs11556924
ZC3HC1
21 0.752 0.240 7 130023656 missense variant C/A;T snv 4.0E-06; 0.28 0.010 1.000 1 2015 2015
dbSNP: rs11559300
rs11559300
GNG5 ; SPATA1
1 1.000 0.040 1 84506076 missense variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs1188884950
rs1188884950
SLC9A3 ; PP7080 ; SLC9A3-AS1
2 0.925 0.080 5 474952 missense variant A/G snv 4.2E-06 0.010 1.000 1 2004 2004
dbSNP: rs121909284
rs121909284
ACVRL1
3 0.882 0.160 12 51916219 missense variant G/A;C snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121909287
rs121909287
ACVRL1
3 0.882 0.160 12 51916218 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs121918359
rs121918359
SMAD9
2 0.925 0.040 13 36872722 stop gained G/A;T snv 2.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs1221928144
rs1221928144
ACE
1 1.000 0.040 17 63477950 missense variant G/A;C snv 8.2E-06 0.010 1.000 1 2007 2007
dbSNP: rs12502572
rs12502572
UCP1
1 1.000 0.040 4 140563980 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs13093
rs13093
GNG5 ; SPATA1
1 1.000 0.040 1 84506286 5 prime UTR variant G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1320206988
rs1320206988
TSC1
2 1.000 0.040 9 132910585 missense variant T/A snv 0.010 1.000 1 2008 2008
dbSNP: rs140598
rs140598
FBN1
5 0.827 0.160 15 48487333 missense variant G/A;C snv 3.2E-02 0.010 1.000 1 2011 2011
dbSNP: rs1454007558
rs1454007558
GJA4 ; SMIM12 ; LOC105378642
1 1.000 0.040 1 34795038 synonymous variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs16932941
rs16932941
GNB3 ; CDCA3
1 1.000 0.040 12 6845700 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs17881426
rs17881426
SOD3
1 1.000 0.040 4 24797878 intron variant T/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs1800471
rs1800471
TGFB1
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs1805094
rs1805094
LEPR
16 0.716 0.440 1 65610269 missense variant G/C;T snv 0.16; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1870049
rs1870049
CYP19A1
1 1.000 0.040 15 51333026 intron variant T/C;G snv 0.010 1.000 1 2008 2008
dbSNP: rs1934953
rs1934953
CYP2C8
2 1.000 0.040 10 95037713 intron variant C/A;T snv 0.010 1.000 1 2017 2017