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: rs1057516769
rs1057516769
IVD
1 1.000 0.080 15 40413046 frameshift variant -/T delins 0.700 0
dbSNP: rs1057517043
rs1057517043
IVD
1 1.000 0.080 15 40411554 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1057517056
rs1057517056
IVD
1 1.000 0.080 15 40416076 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1057517379
rs1057517379
IVD
1 1.000 0.080 15 40405929 frameshift variant CG/- del 0.700 0
dbSNP: rs121434284
rs121434284
IVD
2 0.925 0.080 15 40405952 missense variant T/C snv 0.700 1.000 6 1991 2017
dbSNP: rs121434285
rs121434285
IVD
2 0.925 0.080 15 40411600 missense variant G/T snv 8.0E-06; 8.0E-06 2.1E-05 0.700 1.000 6 1991 2017
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1398838997
rs1398838997
IVD
1 1.000 0.080 15 40410627 splice acceptor variant G/A snv 3.5E-05 0.700 1.000 1 2006 2006
dbSNP: rs142761835
rs142761835
IVD
1 1.000 0.080 15 40410699 missense variant G/A snv 2.8E-05 1.3E-04 0.800 1.000 8 1991 2017
dbSNP: rs1477527791
rs1477527791
IVD
1 1.000 0.080 15 40418175 missense variant G/A snv 1.4E-05 0.800 1.000 2 2012 2014
dbSNP: rs1555403211
rs1555403211
IVD
1 1.000 0.080 15 40407647 frameshift variant -/ATGG delins 0.700 0
dbSNP: rs1555403942
rs1555403942
IVD
1 1.000 0.080 15 40410819 splice acceptor variant ACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC/GTTG delins 0.700 0
dbSNP: rs1555404426
rs1555404426
IVD
1 1.000 0.080 15 40413013 frameshift variant -/T delins 0.700 0
dbSNP: rs1555404784
rs1555404784
IVD
1 1.000 0.080 15 40414888 splice acceptor variant G/A snv 0.700 1.000 2 1998 2000
dbSNP: rs1555405067
rs1555405067
IVD
1 1.000 0.080 15 40416077 splice acceptor variant G/T snv 0.700 0
dbSNP: rs1555405070
rs1555405070
IVD
1 1.000 0.080 15 40416090 frameshift variant A/- delins 0.700 0
dbSNP: rs1555405080
rs1555405080
IVD
1 1.000 0.080 15 40416109 frameshift variant C/- delins 0.700 0
dbSNP: rs1555405428
rs1555405428
IVD
1 1.000 0.080 15 40418219 frameshift variant GGCGGCTGGTCATCGGCAGAGCCTTCAA/- delins 0.700 1.000 1 2000 2000
dbSNP: rs1566936542
rs1566936542
IVD
1 1.000 0.080 15 40411601 frameshift variant C/- delins 0.700 0
dbSNP: rs1805124
rs1805124
SCN5A
16 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.010 1.000 1 2008 2008
dbSNP: rs2229311
rs2229311
IVD
1 1.000 0.080 15 40407640 missense variant G/A;C;T snv 2.8E-05; 1.6E-05; 4.0E-06 0.800 1.000 9 1998 2017
dbSNP: rs28940889
rs28940889
IVD
1 1.000 0.080 15 40415454 missense variant C/T snv 6.4E-04 7.5E-04 0.800 1.000 10 1991 2017
dbSNP: rs34695403
rs34695403
IVD
1 1.000 0.080 15 40407639 missense variant C/G;T snv 2.4E-05; 1.2E-05 0.700 1.000 3 2000 2007
dbSNP: rs367814475
rs367814475
IVD
9 0.925 0.080 15 40415482 missense variant G/C;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs371427844
rs371427844
IVD
1 1.000 0.080 15 40418165 missense variant C/T snv 4.0E-06 4.2E-05 0.800 1.000 6 1991 2017