Source: BEFREE ×
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: rs1155705
rs1155705
TGFBR2
1 1.000 0.040 3 30644922 splice region variant A/G;T snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs12857479
rs12857479
TEX26
1 1.000 0.040 13 30956872 splice acceptor variant G/A snv 0.35 0.28 0.010 1.000 1 2016 2016
dbSNP: rs1346272741
rs1346272741
NOS3
1 1.000 0.040 7 150999064 missense variant A/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs17290301
rs17290301
EGFR
1 1.000 0.040 7 55173189 intron variant G/A snv 2.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs1830321
rs1830321
TEX41 ; LOC100505498
4 0.827 0.080 2 145067988 intron variant C/T snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs200383755
rs200383755
GATA5
1 0.925 0.080 20 62475466 missense variant G/C snv 3.4E-03 3.0E-03 0.010 1.000 1 2012 2012
dbSNP: rs2277923
rs2277923
NKX2-5
13 0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 0.010 1.000 1 2016 2016
dbSNP: rs3764962
rs3764962
GATA6
1 1.000 0.040 18 22183050 splice region variant A/G snv 6.9E-02 0.20 0.010 1.000 1 2018 2018
dbSNP: rs387906656
rs387906656
MYH6
5 0.807 0.120 14 23396970 missense variant G/A snv 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs41305803
rs41305803
GATA5
1 1.000 0.040 20 62473493 missense variant G/A;C snv 0.41; 4.1E-06 0.43 0.010 1.000 1 2018 2018
dbSNP: rs533525993
rs533525993
EGFR
1 1.000 0.040 7 55165435 splice region variant C/T snv 2.4E-04 5.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs557319054
rs557319054
NOTCH1
1 1.000 0.040 9 136502086 missense variant G/A;T snv 8.1E-06; 1.2E-05 0.010 1.000 1 2006 2006
dbSNP: rs61751489
rs61751489
NOTCH1
1 1.000 0.040 9 136496886 missense variant C/T snv 3.1E-02 1.8E-02 0.010 1.000 1 2016 2016
dbSNP: rs61755997
rs61755997
NOTCH1
1 0.925 0.080 9 136515599 missense variant G/A snv 1.5E-04 2.0E-04 0.010 1.000 1 2006 2006