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: rs1555869758
rs1555869758
KCNQ2
1.000 0.040 20 63438654 missense variant T/C snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 29 1980 2017