Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs138404783
rs138404783
1.000 3 38752313 missense variant A/G snv 9.3E-05 9.8E-05
CUI: C3809893
Disease: EPISODIC PAIN SYNDROME, FAMILIAL, 2
EPISODIC PAIN SYNDROME, FAMILIAL, 2
0.800 1.000 1 2012 2012
dbSNP: rs142173735
rs142173735
1.000 3 38712340 missense variant C/A;T snv 2.8E-05; 4.8E-05
CUI: C3809893
Disease: EPISODIC PAIN SYNDROME, FAMILIAL, 2
EPISODIC PAIN SYNDROME, FAMILIAL, 2
0.800 0