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: rs587782310
rs587782310
ATM ; C11orf65
1 1.000 0.080 11 108330234 missense variant G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs730881315
rs730881315
ATM ; C11orf65
1 1.000 0.080 11 108329154 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs751005114
rs751005114
KIT
1 1.000 0.080 4 54731395 missense variant G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs751398376
rs751398376
TTN ; TTN-AS1
1 1.000 0.080 2 178609836 missense variant C/A;G snv 1.2E-05; 4.0E-06 0.700 0
dbSNP: rs753665559
rs753665559
MAP2K4
1 1.000 0.080 17 12125315 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs755089893
rs755089893
STK40
1 1.000 0.080 1 36355378 missense variant A/G snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs758268804
rs758268804
RIPK1
1 1.000 0.080 6 3077855 missense variant G/A snv 3.2E-05 1.0E-04 0.700 0
dbSNP: rs759012409
rs759012409
RIPK1
1 1.000 0.080 6 3083284 missense variant C/T snv 4.1E-06 7.0E-06 0.700 0
dbSNP: rs764355898
rs764355898
NRK
1 1.000 0.080 X 105923145 missense variant A/C snv 7.9E-05 1.9E-05 0.700 0
dbSNP: rs764534677
rs764534677
PRKCB
1 1.000 0.080 16 24035448 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs765563230
rs765563230
NEK11 ; LOC339874
1 1.000 0.080 3 131349687 missense variant G/A snv 2.0E-05 3.5E-05 0.700 0
dbSNP: rs774996232
rs774996232
RIPK1
1 1.000 0.080 6 3077805 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs778726488
rs778726488
MATK
1 1.000 0.080 19 3778199 missense variant C/G;T snv 1.7E-05 0.700 0
dbSNP: rs780763668
rs780763668
MARK4
1 1.000 0.080 19 45280710 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs781401034
rs781401034
PRKDC
1 1.000 0.080 8 47898527 missense variant C/T snv 0.700 0
dbSNP: rs952665081
rs952665081
PAK5 ; LOC105372523
1 1.000 0.080 20 9580201 missense variant A/G snv 0.700 0
dbSNP: rs137853200
rs137853200
EPHA2
2 0.925 0.120 1 16129440 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs139787163
rs139787163
EPHA2
2 0.925 0.120 1 16125271 missense variant C/T snv 4.8E-04 3.6E-04 0.010 1.000 1 2016 2016
dbSNP: rs202160435
rs202160435
ATM
2 0.925 0.240 11 108247072 missense variant G/A snv 8.0E-05 6.3E-05 0.700 0
dbSNP: rs769240800
rs769240800
PALB2
3 0.925 0.120 16 23638116 stop gained A/C snv 8.0E-06 0.700 0
dbSNP: rs759363072
rs759363072
BMPR1A
4 0.882 0.160 10 86917188 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs772821016
rs772821016
ATM
4 0.882 0.320 11 108244873 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs63751127
rs63751127
MSH6 ; FBXO11
5 0.882 0.200 2 47800177 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs121918279
rs121918279
EXT2
5 0.851 0.240 11 44108226 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs267607845
rs267607845
MLH1
5 0.925 0.160 3 37042267 splice acceptor variant G/A;T snv 0.700 0