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: rs104893624
rs104893624
CXCR4 ; LOC112268426
4 0.851 0.200 2 136114928 stop gained G/A snv 0.750 1.000 9 2003 2016
dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
11 0.827 0.280 2 136114915 stop gained G/C snv 0.720 1.000 2 2014 2015
dbSNP: rs104893625
rs104893625
CXCR4 ; LOC112268426
1 1.000 0.160 2 136114901 stop gained C/A snv 0.700 0
dbSNP: rs1240625960
rs1240625960
CXCR4 ; LOC112268426
1 1.000 0.160 2 136114934 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs730880320
rs730880320
CXCR4 ; LOC112268426
1 1.000 0.160 2 136114911 frameshift variant GA/- delins 0.700 0
dbSNP: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs773862672
rs773862672
MTOR
6 0.882 0.280 1 11247922 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2014 2014