Source: UNIPROT ×
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: rs121917971
rs121917971
SCN1A ; SCN1A-AS1
2 0.851 0.080 2 166037885 missense variant C/G;T snv 0.800 1.000 21 2003 2017