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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1346496644
rs1346496644
CCN1
1 1 85581440 missense variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs863225119
rs863225119
TNNT2
5 0.882 0.080 1 201359632 missense variant T/A snv 0.010 1.000 1 2011 2011
dbSNP: rs1553154130
rs1553154130
RERE
18 0.807 0.280 1 8358231 missense variant T/A;C snv 0.700 0
dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
17 0.790 0.400 1 92833544 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1557962794
rs1557962794
RIT1
4 0.882 0.160 1 155910693 missense variant T/G snv 0.700 0
dbSNP: rs387906846
rs387906846
ARID1A
19 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0
dbSNP: rs730881014
rs730881014
RIT1
15 0.776 0.360 1 155904494 stop gained A/C;G;T snv 0.700 0
dbSNP: rs869025191
rs869025191
RIT1
9 0.827 0.160 1 155904739 missense variant C/A;G;T snv 0.700 0
dbSNP: rs199715380
rs199715380
CFC1
2 2 130597533 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs2579433
rs2579433
CFC1B
1 2 130522115 missense variant T/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs369634007
rs369634007
TMEM87B
10 0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05 0.700 1.000 1 2016 2016
dbSNP: rs527656756
rs527656756
HAAO ; MTA3
21 0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05 0.700 1.000 1 2017 2017
dbSNP: rs746365549
rs746365549
TTN
2 2 178782573 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs753669213
rs753669213
LBX2
1 2 74498109 missense variant T/C snv 1.7E-04 1.8E-04 0.010 1.000 1 2018 2018
dbSNP: rs769402060
rs769402060
CYP1B1 ; CYP1B1-AS1
3 0.925 0.120 2 38075022 missense variant A/G snv 3.3E-05 4.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs1213930919
rs1213930919
TTN ; TTN-AS1
9 0.882 0.120 2 178577785 stop gained G/A snv 0.700 0
dbSNP: rs267607079
rs267607079
SOS1
13 0.776 0.240 2 39022772 missense variant C/A;G snv 0.700 0
dbSNP: rs868064163
rs868064163
ACTL6A
13 1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs16835979
rs16835979
STX18-AS1
6 0.851 0.120 4 4633549 intron variant C/A snv 0.20 0.030 1.000 3 2014 2016
dbSNP: rs6824295
rs6824295
STX18-AS1
6 0.851 0.120 4 4612553 intron variant C/T snv 0.20 0.030 1.000 3 2014 2016
dbSNP: rs870142
rs870142
STX18-AS1
7 0.851 0.120 4 4646320 intron variant C/G;T snv 0.020 1.000 2 2015 2016
dbSNP: rs137852952
rs137852952
TLL1
2 1.000 0.080 4 166003471 missense variant T/C snv 2.1E-04 2.4E-04 0.010 1.000 1 2009 2009
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2013 2013
dbSNP: rs375349466
rs375349466
TLL1
1 4 166003545 missense variant A/G snv 8.0E-06 2.8E-05 0.010 1.000 1 2016 2016