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: rs104893894
rs104893894
IL7R
2 0.925 0.120 5 35871070 missense variant C/T snv 4.0E-06 0.800 1.000 2 1998 2000
dbSNP: rs193922641
rs193922641
IL7R
3 0.882 0.120 5 35867437 missense variant G/A snv 1.2E-05 4.2E-05 0.700 1.000 5 2005 2016
dbSNP: rs199641706
rs199641706
IL7R
1 1.000 0.120 5 35867417 synonymous variant T/A;C snv 0.700 1.000 2 1998 2016
dbSNP: rs200803157
rs200803157
IL7R ; LOC105374724
1 1.000 0.120 5 35860851 splice acceptor variant G/A snv 7.0E-06 0.700 1.000 2 2011 2015
dbSNP: rs1553243550
rs1553243550
PTPRC
1 1.000 0.120 1 198735253 splice donor variant G/A snv 0.700 1.000 1 2000 2000
dbSNP: rs869312857
rs869312857
IL7R
1 1.000 0.120 5 35867438 frameshift variant -/A delins 0.700 1.000 1 2014 2014
dbSNP: rs104893893
rs104893893
IL7R
1 1.000 0.120 5 35873593 stop gained G/A snv 0.700 0
dbSNP: rs1315265916
rs1315265916
IL7R
1 1.000 0.120 5 35873479 splice acceptor variant G/A snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs1554066684
rs1554066684
IL7R
1 1.000 0.120 5 35867372 frameshift variant GAAA/- delins 0.700 0
dbSNP: rs1554067182
rs1554067182
IL7R
1 1.000 0.120 5 35874494 frameshift variant -/C delins 0.700 0
dbSNP: rs1561423197
rs1561423197
IL7R
1 1.000 0.120 5 35871112 frameshift variant TT/- delins 0.700 0
dbSNP: rs200044623
rs200044623
IL7R ; LOC105374724
1 1.000 0.120 5 35860992 splice donor variant T/G snv 4.0E-05 2.1E-05 0.700 0
dbSNP: rs398122383
rs398122383
PTPRC
1 1.000 0.120 1 198718267 stop gained A/G;T snv 4.0E-06 0.700 0
dbSNP: rs766555082
rs766555082
IL7R
1 1.000 0.120 5 35873646 stop gained C/G;T snv 4.0E-06 0.700 0