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: rs121918453
rs121918453
PTPN11
19 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.700 0
dbSNP: rs121918455
rs121918455
PTPN11
31 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
dbSNP: rs121918457
rs121918457
PTPN11
24 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs121918461
rs121918461
PTPN11
12 0.827 0.240 12 112450362 missense variant A/C;G;T snv 0.700 0
dbSNP: rs121918463
rs121918463
PTPN11
6 0.851 0.240 12 112477651 missense variant T/A;C;G snv 0.700 0
dbSNP: rs121918466
rs121918466
PTPN11
14 0.752 0.280 12 112450416 missense variant A/G snv 0.700 0
dbSNP: rs397507545
rs397507545
PTPN11
20 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs727505381
rs727505381
SOS1
5 0.925 0.160 2 39013523 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1162592300
rs1162592300
ALB
3 0.925 0.080 4 73412045 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs3732378
rs3732378
CX3CR1
48 0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12 0.010 1.000 1 2003 2003
dbSNP: rs3732379
rs3732379
CX3CR1
38 0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22 0.010 1.000 1 2003 2003
dbSNP: rs767830104
rs767830104
CXCR4
13 0.752 0.280 2 136115399 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2003 2003