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: rs6801957
rs6801957
SCN10A
7 1.000 0.080 3 38725824 intron variant T/C snv 0.67 0.800 1.000 6 2011 2019
dbSNP: rs3807989
rs3807989
CAV1
2 1.000 0.080 7 116546187 intron variant A/G snv 0.53 0.800 1.000 5 2010 2019
dbSNP: rs11773845
rs11773845
CAV1
4 0.925 0.120 7 116551247 intron variant C/A snv 0.53 0.800 1.000 4 2012 2019
dbSNP: rs3922844
rs3922844
SCN5A
3 3 38582762 intron variant T/C snv 0.61 0.800 1.000 4 2011 2019
dbSNP: rs11708996
rs11708996
SCN5A
6 0.925 0.120 3 38592432 intron variant G/C snv 0.11 0.800 1.000 3 2010 2019
dbSNP: rs3891585
rs3891585
MEIS1
1 2 66529844 intron variant A/C;G snv 0.800 1.000 3 2011 2019
dbSNP: rs6800541
rs6800541
SCN10A
3 1.000 0.080 3 38733341 intron variant C/T snv 0.70 0.800 1.000 3 2010 2019
dbSNP: rs7433306
rs7433306
SCN10A
1 3 38729148 intron variant C/G snv 0.70 0.800 1.000 3 2011 2019
dbSNP: rs10865355
rs10865355
MEIS1
1 2 66537865 intron variant A/G snv 0.61 0.800 1.000 2 2011 2019
dbSNP: rs11732231
rs11732231
ARHGAP24
1 4 85762407 intron variant G/C;T snv 0.800 1.000 2 2012 2019
dbSNP: rs11763856
rs11763856 		1 7 35506177 intron variant C/T snv 1.9E-02 0.700 1.000 2 2018 2019
dbSNP: rs11897119
rs11897119
MEIS1
3 2 66544868 intron variant T/A;C snv 0.800 1.000 2 2010 2019
dbSNP: rs17026156
rs17026156
SLC8A1 ; LOC101929667
1 2 40533825 intron variant T/C snv 6.8E-02 0.700 1.000 2 2014 2019
dbSNP: rs1895585
rs1895585
TBX5
1 12 114364333 intron variant A/G;T snv 0.800 1.000 2 2011 2012
dbSNP: rs3825214
rs3825214
TBX5
8 0.851 0.080 12 114357638 intron variant G/A snv 0.77 0.700 1.000 2 2010 2019
dbSNP: rs4952632
rs4952632
SLC8A1 ; LOC101929667
1 2 40520865 intron variant T/G snv 8.5E-02 0.700 1.000 2 2014 2019
dbSNP: rs6599222
rs6599222
SCN5A
1 3 38606571 intron variant C/T snv 0.80 0.800 1.000 2 2011 2019
dbSNP: rs6599250
rs6599250
SCN10A
1 3 38742538 intron variant T/C snv 0.65 0.70 0.800 1.000 2 2011 2018
dbSNP: rs6730558
rs6730558
LOC105373411
5 2 8616053 intron variant C/T snv 0.47 0.700 1.000 2 2018 2019
dbSNP: rs6798015
rs6798015
SCN10A
2 1.000 0.080 3 38757345 intron variant C/T snv 0.70 0.800 1.000 2 2011 2019
dbSNP: rs7660702
rs7660702
ARHGAP24
1 4 85730311 intron variant T/C snv 0.43 0.700 1.000 2 2010 2019
dbSNP: rs7692808
rs7692808
ARHGAP24
1 4 85719996 intron variant A/G;T snv 0.800 1.000 2 2010 2019
dbSNP: rs10452033
rs10452033
CACNA1D
1 3 53407349 intron variant G/A snv 0.25 0.700 1.000 1 2014 2014
dbSNP: rs11067773
rs11067773 		1 12 115790690 intron variant T/C snv 7.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs114133078
rs114133078
C1QTNF7 ; C1QTNF7-AS1
1 4 15352761 intron variant T/C snv 2.9E-02 0.700 1.000 1 2013 2013