Source: BEFREE

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: rs80356477
rs80356477
SCN9A ; SCN1A-AS1
0.925 0.040 2 166277237 missense variant C/A;G snv 1.2E-05
CUI: C0014804
Disease: Erythromelalgia
Erythromelalgia 		0.010 1.000 1 2009 2009