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: rs111033623
rs111033623
SH2D1A ; STAG2
3 0.925 0.080 X 124365786 stop gained C/T snv 0.710 1.000 18 1998 2020
dbSNP: rs111033624
rs111033624
SH2D1A ; STAG2
1 1.000 0.080 X 124346737 missense variant G/C snv 0.700 1.000 11 1998 2006
dbSNP: rs111033626
rs111033626
SH2D1A ; STAG2
1 1.000 0.080 X 124370276 missense variant C/T snv 0.700 1.000 11 1998 2006
dbSNP: rs111033627
rs111033627
SH2D1A ; STAG2
1 1.000 0.080 X 124370177 missense variant C/T snv 0.700 1.000 11 1998 2006
dbSNP: rs111033630
rs111033630
SH2D1A ; STAG2
1 1.000 0.080 X 124365787 stop gained G/T snv 0.700 1.000 11 1998 2006
dbSNP: rs1042329449
rs1042329449
CD84 ; LOC105371468
1 1.000 0.080 1 160553915 missense variant G/A snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1212771107
rs1212771107
SH2D1A ; STAG2
1 1.000 0.080 X 124370315 missense variant C/T snv 5.5E-06 0.010 1.000 1 2014 2014
dbSNP: rs35467325
rs35467325
CD84 ; LOC105371468
1 1.000 0.080 1 160550984 missense variant G/A;C snv 4.4E-04; 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs963482452
rs963482452
SLAMF6
1 1.000 0.080 1 160491184 missense variant A/G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs989584172
rs989584172
CD84 ; LOC105371468
1 1.000 0.080 1 160548305 missense variant G/A snv 7.0E-06 0.010 1.000 1 2006 2006