Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894295
rs104894295
SC5D
1 1.000 0.080 11 121303461 missense variant G/A snv 3.6E-05 0.800 1.000 2 2002 2003
dbSNP: rs104894296
rs104894296
SC5D
1 1.000 0.080 11 121307244 splice donor variant G/A snv 0.800 1.000 2 2002 2003
dbSNP: rs104894297
rs104894297
SC5D
1 1.000 0.080 11 121303512 missense variant A/C;G snv 8.0E-06; 4.0E-06 0.800 1.000 2 2002 2003