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: 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
5 0.827 0.080 2 145067988 intron variant C/T snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs387906656
rs387906656
MYH6
6 0.807 0.120 14 23396970 missense variant G/A snv 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs7543130
rs7543130
LINC01708
2 0.925 0.080 1 99584229 intron variant C/A snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs9930956
rs9930956
SLC9A3R2
1 1.000 0.040 16 2035294 intron variant C/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs1057518422
rs1057518422
TAB2
7 0.851 0.240 6 149378954 stop gained C/T snv 0.700 0
dbSNP: rs1057518788
rs1057518788
DSG1
2 0.925 0.120 18 31331787 stop gained G/T snv 0.700 0
dbSNP: rs1057518920
rs1057518920
DSP
5 0.925 0.080 6 7575386 stop gained C/A snv 0.700 0
dbSNP: rs1559470315
rs1559470315
CTNNB1
26 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
dbSNP: rs1563005360
rs1563005360
FLNC ; FLNC-AS1
11 0.807 0.120 7 128857103 splice acceptor variant ACCTCTGGCCCCCAGGTGTGTCATCAGAGTTCATCGTGAACACCCTGAATGCCGGCTCGGGGGCCTTGTCTGTCACCATTGATGGCCCCTC/GAGG delins 0.700 0
dbSNP: rs1569484208
rs1569484208
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3
1 1.000 0.040 MT 8418 protein altering variant -/ATA delins 0.700 0
dbSNP: rs1569484234
rs1569484234
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; ND4L
1 1.000 0.040 MT 8750 protein altering variant -/AAA delins 0.700 0
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: 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: 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: rs61755997
rs61755997
NOTCH1
2 0.925 0.080 9 136515599 missense variant G/A snv 1.5E-04 2.0E-04 0.010 1.000 1 2006 2006
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: rs200383755
rs200383755
GATA5
3 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: 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: 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: 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: 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: 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