Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs118192212
rs118192212
KCNQ2
0.925 0.040 20 63439610 inframe deletion AAG/- delins
CUI: C2363129
Disease: Benign Rolandic Epilepsy
Benign Rolandic Epilepsy 		0.700 1.000 2 2009 2012
dbSNP: rs201868078
rs201868078
KCNQ2
0.925 0.040 20 63408524 missense variant G/A;C snv 1.6E-05
CUI: C2363129
Disease: Benign Rolandic Epilepsy
Benign Rolandic Epilepsy 		0.700 1.000 1 2008 2008