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: rs16969925
rs16969925
SCN1B
6 0.807 0.160 19 35033545 missense variant G/A snv 8.0E-06 2.1E-05 0.800 0
dbSNP: rs72550247
rs72550247
HPN ; SCN1B
2 0.925 0.080 19 35039125 missense variant G/A snv 6.0E-05 8.4E-05 0.700 1.000 1 2009 2009
dbSNP: rs104894718
rs104894718
SCN1B
8 0.790 0.160 19 35033654 stop gained C/A;G;T snv 4.0E-06 0.700 0