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: rs121908191
rs121908191
1.000 5 157241663 missense variant C/T snv
CUI: C3552634
Disease: LYMPHOPROLIFERATIVE SYNDROME 1
LYMPHOPROLIFERATIVE SYNDROME 1
0.800 1.000 1 2009 2009
dbSNP: rs397514260
rs397514260
1.000 5 157248980 stop gained C/G snv
CUI: C3552634
Disease: LYMPHOPROLIFERATIVE SYNDROME 1
LYMPHOPROLIFERATIVE SYNDROME 1
0.700 0
dbSNP: rs397514261
rs397514261
1.000 5 157181063 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C3552634
Disease: LYMPHOPROLIFERATIVE SYNDROME 1
LYMPHOPROLIFERATIVE SYNDROME 1
0.700 0