Source: ALL

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: rs1553525325
rs1553525325
SCN1A ; SCN1A-AS1 ; LOC102724058
0.807 0.120 2 166002716 missense variant A/T snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0