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: rs3796863
rs3796863
CD38
8 0.790 0.160 4 15848363 intron variant G/T snv 0.41 0.020 1.000 2 2010 2012
dbSNP: rs2293485
rs2293485
STX1A
1 1.000 0.080 7 73708593 synonymous variant A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs4717806
rs4717806
STX1A ; BUD23 ; LOC105375350
9 0.776 0.200 7 73702147 intron variant T/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs6449197
rs6449197
CD38
3 0.882 0.120 4 15813299 intron variant C/T snv 0.23 0.010 1.000 1 2010 2010