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: rs121434502
rs121434502
RANBP2
2 1.000 2 108751993 missense variant C/T snv 7.0E-06 0.020 1.000 2 2016 2017
dbSNP: rs121918807
rs121918807
SCN1A ; SCN1A-AS1 ; LOC102724058
5 0.851 0.080 2 165994275 missense variant G/A snv 7.2E-05 2.8E-05 0.010 1.000 1 2012 2012
dbSNP: rs770727082
rs770727082
RANBP2
1 1.000 2 108765532 missense variant A/G snv 2.0E-05 8.5E-05 0.010 1.000 1 2018 2018