Source: CURATED ×
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: rs1531070
rs1531070
MAML3
6 0.851 0.120 4 139874173 intron variant G/A snv 0.30 0.800 1.000 1 2013 2013
dbSNP: rs2474937
rs2474937 		6 0.851 0.120 1 118360355 intergenic variant A/G snv 0.25 0.800 1.000 1 2013 2013
dbSNP: rs727504412
rs727504412
JAG1
3 0.925 0.120 20 10645245 frameshift variant ACTG/- delins 0.700 1.000 4 1997 2005
dbSNP: rs397516908
rs397516908
NKX2-5
1 5 173233142 frameshift variant CCG/AT delins 0.700 1.000 2 1998 1999
dbSNP: rs1176869
rs1176869
LOC105370467
1 14 40807221 intron variant C/G snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs11895588
rs11895588
LRP1B
1 2 141204588 intron variant G/T snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs1245314
rs1245314 		1 14 27023434 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs146189703
rs146189703
LOC105377552
2 1.000 0.080 4 175023930 downstream gene variant T/C snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs17111230
rs17111230 		1 14 40922047 intergenic variant G/C snv 0.56 0.700 1.000 1 2017 2017
dbSNP: rs1941023
rs1941023
LOC105369320
1 11 60508428 downstream gene variant G/A snv 0.50 0.700 1.000 1 2017 2017
dbSNP: rs2844660
rs2844660 		1 6 30855983 regulatory region variant T/C snv 7.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs56409046
rs56409046 		1 6 9320073 intergenic variant C/T snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs66678247
rs66678247
LOC107986115
1 3 114227412 intron variant T/C snv 9.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs75661265
rs75661265 		1 8 59275232 regulatory region variant C/T snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs870142
rs870142
STX18-AS1
2 0.851 0.120 4 4646320 intron variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs374016704
rs374016704
GDF1 ; UPF1 ; CERS1
3 0.925 0.120 19 18868625 missense variant A/G snv 5.1E-04 2.7E-04 0.700 0
dbSNP: rs876657934
rs876657934
NKX2-5
1 5 173233212 splice region variant G/C snv 0.700 0
dbSNP: rs879253817
rs879253817
CIT
4 0.925 0.120 12 119876131 frameshift variant AAAGGATTCC/- delins 0.700 0