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: rs137854604
rs137854604
SCN5A
3 0.882 0.120 3 38551243 missense variant G/A snv 1.6E-05 7.0E-06 0.710 < 0.001 1 2000 2000
dbSNP: rs199473097
rs199473097
SCN5A
9 0.763 0.120 3 38606710 missense variant G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs45546039
rs45546039
SCN5A
15 0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 0.700 0
dbSNP: rs757532106
rs757532106
SCN5A
9 0.763 0.120 3 38550500 stop gained G/A snv 4.5E-05 4.9E-05 0.700 0
dbSNP: rs1256049
rs1256049
ESR2
32 0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02 0.010 1.000 1 2007 2007
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2007 2007
dbSNP: rs40401
rs40401
IL3 ; LOC105379174
8 0.776 0.440 5 132060785 missense variant C/T snv 0.29 0.33 0.010 1.000 1 2019 2019
dbSNP: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2007 2007