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: rs267606704
rs267606704
CBL
3 1.000 11 119278170 missense variant A/C;G snv 0.800 0
dbSNP: rs267606705
rs267606705
CBL
2 0.925 0.040 11 119278214 missense variant A/G snv 0.800 0
dbSNP: rs267606707
rs267606707
CBL
1 1.000 11 119278238 missense variant G/T snv 0.800 0
dbSNP: rs267606708
rs267606708
CBL
2 0.925 0.040 11 119278541 missense variant G/A snv 4.0E-06 2.1E-05 0.800 0
dbSNP: rs121918456
rs121918456
PTPN11
13 0.752 0.280 12 112473023 missense variant A/C;G snv 0.700 0
dbSNP: rs387906666
rs387906666
CBL
5 0.827 0.080 11 119278182 missense variant A/C;G snv 0.700 0
dbSNP: rs397507489
rs397507489
CBL
1 1.000 11 119232558 stop gained T/C;G snv 4.0E-06 0.700 0
dbSNP: rs397517077
rs397517077
CBL
10 0.851 0.320 11 119278162 splice acceptor variant AAAG/- del 0.700 0
dbSNP: rs727504640
rs727504640
CBL
1 1.000 11 119285379 missense variant G/A;T snv 1.2E-05; 8.0E-06 0.700 0
dbSNP: rs267606706
rs267606706
CBL
9 0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 0.010 1.000 1 2017 2017