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: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2010 2010
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: rs6599230
rs6599230
SCN5A
1 1.000 0.080 3 38633221 synonymous variant T/A;C snv 0.77 0.010 1.000 1 2008 2008
dbSNP: rs373594717
rs373594717
IVD
1 1.000 0.080 15 40405819 start lost A/C;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 2 1990 1992
dbSNP: rs566691073
rs566691073
IVD
1 1.000 0.080 15 40405820 start lost T/C;G snv 1.6E-05 7.0E-06 0.700 1.000 2 1990 1992
dbSNP: rs907414760
rs907414760
IVD
1 1.000 0.080 15 40405871 stop gained G/A;C snv 7.0E-06 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: rs928991928
rs928991928
IVD
1 1.000 0.080 15 40405972 splice donor variant G/A;C snv 0.700 0
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: 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: rs1555403211
rs1555403211
IVD
1 1.000 0.080 15 40407647 frameshift variant -/ATGG delins 0.700 0
dbSNP: rs747273828
rs747273828
IVD
1 1.000 0.080 15 40407696 missense variant G/A;C snv 2.4E-05 2.1E-05 0.700 0
dbSNP: rs765815516
rs765815516
IVD
1 1.000 0.080 15 40407723 stop gained C/T snv 8.0E-06 1.4E-05 0.700 0
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: rs776015412
rs776015412
IVD
1 1.000 0.080 15 40410690 stop gained C/T snv 1.2E-05 0.700 1.000 1 2016 2016
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: rs769048174
rs769048174
IVD
1 1.000 0.080 15 40410722 frameshift variant T/- del 7.0E-06 0.700 1.000 2 2000 2013
dbSNP: rs398123682
rs398123682
IVD
1 1.000 0.080 15 40410738 frameshift variant TG/- del 7.0E-06 0.700 0
dbSNP: rs398123683
rs398123683
IVD
1 1.000 0.080 15 40410799 splice donor variant T/C snv 2.0E-05 1.4E-05 0.700 1.000 5 2000 2014
dbSNP: rs1555403942
rs1555403942
IVD
1 1.000 0.080 15 40410819 splice acceptor variant ACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC/GTTG delins 0.700 0
dbSNP: rs786204427
rs786204427
IVD
1 1.000 0.080 15 40411257 splice acceptor variant CA/GG mnv 0.700 1.000 3 2000 2011
dbSNP: rs771914739
rs771914739
IVD
1 1.000 0.080 15 40411258 splice acceptor variant A/C;G snv 4.0E-06; 8.0E-06 0.700 1.000 2 2000 2007
dbSNP: rs398123684
rs398123684
IVD
1 1.000 0.080 15 40411301 frameshift variant G/- del 2.0E-05 1.4E-05 0.700 0
dbSNP: rs377147994
rs377147994
IVD
1 1.000 0.080 15 40411354 splice donor variant G/A snv 8.0E-06 7.0E-05 0.700 0