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: rs118192212
rs118192212
KCNQ2
6 0.925 0.040 20 63439610 inframe deletion AAG/- delins 0.700 1.000 2 2009 2012
dbSNP: rs201868078
rs201868078
KCNQ2
2 0.925 0.040 20 63408524 missense variant G/A;C snv 1.6E-05 0.700 1.000 1 2008 2008