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: rs104894718
rs104894718
SCN1B
8 0.790 0.160 19 35033654 stop gained C/A;G;T snv 4.0E-06 0.800 1.000 3 1998 2011
dbSNP: rs759839781
rs759839781
SCN1B
1 1.000 0.080 19 35033665 missense variant G/A;T snv 0.700 1.000 3 1998 2011
dbSNP: rs16969925
rs16969925
SCN1B
6 0.807 0.160 19 35033545 missense variant G/A snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs724159982
rs724159982
SCN1B
1 1.000 0.080 19 35033497 splice acceptor variant A/C snv 0.700 0
dbSNP: rs786205830
rs786205830
SCN1B
1 1.000 0.080 19 35033544 missense variant C/T snv 0.700 0