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: rs104894284
rs104894284
RAG1
1 1.000 0.120 11 36574986 missense variant G/A snv 1.2E-05 2.1E-05 0.810 0.857 7 1998 2011
dbSNP: rs104894285
rs104894285
RAG1
3 0.882 0.120 11 36574985 missense variant C/T snv 1.6E-05 1.4E-05 0.800 1.000 6 1998 2011
dbSNP: rs104894286
rs104894286
RAG1
2 0.925 0.160 11 36575514 missense variant G/A snv 4.0E-05 2.1E-05 0.800 1.000 6 1998 2011
dbSNP: rs104894287
rs104894287
RAG1 ; RAG2
5 0.827 0.200 11 36575825 missense variant C/G;T snv 3.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs104894289
rs104894289
RAG1
1 1.000 0.120 11 36574490 missense variant C/T snv 8.0E-06 2.1E-05 0.800 1.000 12 1998 2011
dbSNP: rs104894290
rs104894290
RAG1 ; RAG2
1 1.000 0.120 11 36576039 missense variant A/G snv 0.800 1.000 6 1998 2011
dbSNP: rs104894291
rs104894291
RAG1
3 0.882 0.160 11 36574491 missense variant G/A;T snv 1.6E-05 0.800 1.000 6 1998 2011
dbSNP: rs104894292
rs104894292
RAG1
1 1.000 0.120 11 36574590 missense variant A/G;T snv 0.800 1.000 6 1998 2011
dbSNP: rs104894298
rs104894298
RAG1
2 0.925 0.160 11 36574823 missense variant C/T snv 0.700 1.000 6 1998 2011
dbSNP: rs111033618
rs111033618
IL2RG
4 0.925 0.120 X 71109321 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs1204766339
rs1204766339
RAG1 ; RAG2 ; IFTAP
2 1.000 0.120 11 36592794 missense variant T/C;G snv 4.0E-06 0.700 1.000 2 2012 2015
dbSNP: rs121908156
rs121908156
DCLRE1C
2 0.925 0.120 10 14945110 stop gained G/A;T snv 1.2E-05; 4.0E-06 0.700 0
dbSNP: rs121908158
rs121908158
DCLRE1C ; MEIG1
1 1.000 0.120 10 14954009 start lost A/G snv 7.0E-06 0.700 0
dbSNP: rs121908159
rs121908159
DCLRE1C ; MEIG1
1 1.000 0.120 10 14953908 missense variant G/C snv 4.0E-06 0.800 1.000 4 2004 2015
dbSNP: rs121917894
rs121917894
RAG2 ; IFTAP
5 0.851 0.160 11 36593483 missense variant C/A;T snv 8.0E-06; 8.0E-06 0.040 1.000 4 2007 2019
dbSNP: rs121917895
rs121917895
RAG2 ; IFTAP
3 0.925 0.120 11 36594046 missense variant G/A;C snv 2.8E-05 0.800 1.000 2 1998 2001
dbSNP: rs121917896
rs121917896
RAG2 ; IFTAP
2 1.000 0.120 11 36593315 missense variant A/C snv 0.800 1.000 2 1998 2001
dbSNP: rs121917897
rs121917897
RAG2 ; IFTAP
4 0.882 0.120 11 36594054 missense variant T/C snv 0.700 0
dbSNP: rs121918571
rs121918571
RAG1
3 0.882 0.160 11 36574287 missense variant G/A snv 7.0E-06 0.800 1.000 6 1998 2011
dbSNP: rs141524540
rs141524540
RAG1
4 0.851 0.200 11 36574607 missense variant A/G snv 2.8E-05 2.8E-05 0.800 1.000 6 1998 2011
dbSNP: rs148508754
rs148508754
RAG2 ; IFTAP
4 0.882 0.120 11 36594065 missense variant C/A;G snv 4.0E-06; 4.0E-06 0.700 1.000 4 2001 2012
dbSNP: rs150739647
rs150739647
RAG1 ; RAG2
2 0.925 0.120 11 36576228 missense variant G/A;C snv 4.4E-05; 4.0E-06 0.700 1.000 6 1998 2011
dbSNP: rs1564995611
rs1564995611
RAG1 ; RAG2 ; IFTAP
2 1.000 0.120 11 36592803 missense variant C/T snv 0.700 1.000 1 2009 2009
dbSNP: rs1564995627
rs1564995627
RAG1 ; RAG2 ; IFTAP
2 1.000 0.120 11 36592812 missense variant A/T snv 0.700 1.000 2 2000 2002
dbSNP: rs1564997121
rs1564997121
RAG2 ; IFTAP
2 1.000 0.120 11 36593699 missense variant C/A snv 0.700 1.000 1 2011 2011