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: rs1057518960
rs1057518960
GJA1
7 0.882 0.160 6 121447333 missense variant G/C snv 0.700 0
dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
36 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
dbSNP: rs1558027212
rs1558027212
TMCO1
7 0.827 0.320 1 165728096 frameshift variant GC/- del 0.700 0
dbSNP: rs587783446
rs587783446
CHD7
19 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 0.750 4 1998 2019
dbSNP: rs2235371
rs2235371
IRF6
11 0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 0.740 1.000 5 2004 2015
dbSNP: rs7017252
rs7017252
CCDC26
2 0.925 0.120 8 128938598 intron variant C/T snv 0.32 0.800 1.000 4 2009 2017
dbSNP: rs987525
rs987525
CCDC26
7 0.807 0.160 8 128933908 intron variant C/A snv 0.31 0.800 1.000 4 2009 2012
dbSNP: rs12546523
rs12546523
CCDC26
1 1.000 0.080 8 128973864 intron variant G/A snv 0.49 0.700 1.000 3 2009 2012
dbSNP: rs12547241
rs12547241
CCDC26
1 1.000 0.080 8 128940263 intron variant G/A snv 0.38 0.700 1.000 3 2009 2012
dbSNP: rs882083
rs882083
CCDC26
1 1.000 0.080 8 128970510 intron variant C/T snv 0.41 0.700 1.000 3 2009 2012
dbSNP: rs2004375
rs2004375
CCDC26
1 1.000 0.080 8 128990484 intron variant C/T snv 0.16 0.700 1.000 2 2009 2012
dbSNP: rs10956453
rs10956453
CCDC26
1 1.000 0.080 8 128937545 intron variant G/C snv 0.72 0.700 1.000 1 2009 2009
dbSNP: rs11506137
rs11506137
CCDC26
1 1.000 0.080 8 128916902 non coding transcript exon variant C/T snv 0.45 0.700 1.000 1 2009 2009
dbSNP: rs1155582
rs1155582
CCDC26
1 1.000 0.080 8 128882775 intron variant C/G snv 0.64 0.700 1.000 1 2009 2009
dbSNP: rs11994831
rs11994831
CCDC26
1 1.000 0.080 8 128876235 intron variant C/T snv 0.52 0.700 1.000 1 2009 2009
dbSNP: rs12546244
rs12546244
CCDC26 ; LINC00976
1 1.000 0.080 8 128958000 intron variant G/A snv 0.11 0.700 1.000 1 2009 2009
dbSNP: rs13265167
rs13265167
CCDC26
1 1.000 0.080 8 128947070 intron variant C/T snv 0.18 0.700 1.000 1 2009 2009
dbSNP: rs13274247
rs13274247
CCDC26
1 1.000 0.080 8 128969222 intron variant G/A snv 0.38 0.700 1.000 1 2009 2009
dbSNP: rs1372449
rs1372449
CCDC26
1 1.000 0.080 8 128938144 intron variant G/A snv 0.32 0.700 1.000 1 2009 2009
dbSNP: rs1372995
rs1372995 		1 1.000 0.080 8 128630121 downstream gene variant T/C snv 4.1E-02 0.700 1.000 1 2009 2009
dbSNP: rs1432017
rs1432017
CCDC26
1 1.000 0.080 8 128723840 intron variant C/T snv 0.32 0.700 1.000 1 2009 2009
dbSNP: rs1441994
rs1441994
CCDC26 ; LINC00976
1 1.000 0.080 8 128956941 intron variant T/C snv 0.32 0.700 1.000 1 2009 2009
dbSNP: rs17085106
rs17085106
LINC01899
1 1.000 0.080 18 71771837 intron variant G/T snv 6.3E-02 0.800 1.000 1 2009 2009
dbSNP: rs17241253
rs17241253
CCDC26
1 1.000 0.080 8 128877942 intron variant T/C snv 0.13 0.700 1.000 1 2009 2009