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: rs104895080
rs104895080
0.882 0.160 16 3254380 missense variant C/G;T snv 6.3E-04
CUI: C3889979
Disease: Periodic Fever Syndrome
Periodic Fever Syndrome
0.010 1.000 1 2014 2014
dbSNP: rs104895080
rs104895080
0.882 0.160 16 3254380 missense variant C/G;T snv 6.3E-04
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.010 1.000 1 2010 2010