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: rs9909104
rs9909104
SHMT1
4 0.882 0.200 17 18344707 intron variant T/C snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs879253817
rs879253817
CIT
4 0.925 0.120 12 119876131 frameshift variant AAAGGATTCC/- delins 0.700 0
dbSNP: rs876657934
rs876657934
NKX2-5
1 5 173233212 splice region variant G/C snv 0.700 0
dbSNP: rs870142
rs870142
STX18-AS1
7 0.851 0.120 4 4646320 intron variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs7941395
rs7941395 		1 11 67579946 upstream gene variant A/G snv 0.38 0.010 1.000 1 2017 2017
dbSNP: rs76992529
rs76992529
TTR
36 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.010 1.000 1 2015 2015
dbSNP: rs763679435
rs763679435
TSHR ; LOC101928462
4 0.882 0.120 14 81143883 stop gained C/T snv 4.0E-06 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs75661265
rs75661265 		1 8 59275232 regulatory region variant C/T snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs7294985
rs7294985
MGST1
1 12 16349610 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs727504412
rs727504412
JAG1
3 0.925 0.120 20 10645245 frameshift variant ACTG/- delins 0.700 1.000 4 1997 2005
dbSNP: rs66678247
rs66678247
LOC107986115
1 3 114227412 intron variant T/C snv 9.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs6602178
rs6602178
TRDMT1
1 10 17138170 3 prime UTR variant A/C snv 0.51 0.010 1.000 1 2017 2017
dbSNP: rs58034145
rs58034145
LMNA
10 0.827 0.160 1 156134830 missense variant A/C snv 0.010 1.000 1 2019 2019
dbSNP: rs57920071
rs57920071
LMNA
11 0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs56409046
rs56409046 		1 6 9320073 intergenic variant C/T snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs542852
rs542852
BHMT ; DMGDH
1 5 79113573 intron variant T/C snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs492842
rs492842
BHMT ; DMGDH
1 5 79114164 intron variant C/T snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs4808863
rs4808863
GDF1 ; CERS1
5 0.851 0.080 19 18869363 missense variant G/A snv 0.37 0.30 0.010 1.000 1 2015 2015
dbSNP: rs4720169
rs4720169
TBX20
2 1.000 0.040 7 35247689 intron variant G/A snv 0.53 0.010 1.000 1 2019 2019
dbSNP: rs4343
rs4343
ACE
14 0.742 0.480 17 63488670 synonymous variant G/A snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs398123001
rs398123001
PUF60
4 0.925 8 143818378 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs397516908
rs397516908
NKX2-5
1 5 173233142 frameshift variant CCG/AT delins 0.700 1.000 2 1998 1999
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 1.000 3 2009 2017
dbSNP: rs387906772
rs387906772
GATA4
3 1.000 0.080 8 11755064 missense variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs3832879
rs3832879
FGF23
2 12 4372733 non coding transcript exon variant -/A;G ins 4.0E-06; 0.12; 4.0E-06; 4.0E-06 0.10 0.010 1.000 1 2013 2013