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: rs376894109
rs376894109
1 1.000 0.080 1 2175293 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs528967912
rs528967912
1 1.000 0.080 7 98964724 missense variant C/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs539738963
rs539738963
1 1.000 0.080 1 36348807 missense variant C/T snv 2.2E-05 1.4E-05 0.700 0
dbSNP: rs555460132
rs555460132
1 1.000 0.080 7 44228798 missense variant G/A snv 1.9E-04 2.0E-04 0.700 0
dbSNP: rs555607708
rs555607708
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs587779858
rs587779858
ATM
1 1.000 0.080 11 108227692 missense variant G/A snv 0.700 0
dbSNP: rs587782310
rs587782310
1 1.000 0.080 11 108330234 missense variant G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs587782652
rs587782652
5 0.851 0.320 11 108335105 missense variant T/C snv 3.2E-05 4.2E-05 0.700 0
dbSNP: rs730881315
rs730881315
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
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
1 1.000 0.080 17 12125315 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs755089893
rs755089893
1 1.000 0.080 1 36355378 missense variant A/G snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs758268804
rs758268804
1 1.000 0.080 6 3077855 missense variant G/A snv 3.2E-05 1.0E-04 0.700 0
dbSNP: rs759012409
rs759012409
1 1.000 0.080 6 3083284 missense variant C/T snv 4.1E-06 7.0E-06 0.700 0
dbSNP: rs759363072
rs759363072
4 0.882 0.160 10 86917188 stop gained C/G;T snv 4.0E-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
1 1.000 0.080 16 24035448 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs765563230
rs765563230
1 1.000 0.080 3 131349687 missense variant G/A snv 2.0E-05 3.5E-05 0.700 0
dbSNP: rs769240800
rs769240800
3 0.925 0.120 16 23638116 stop gained A/C snv 8.0E-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: rs774996232
rs774996232
1 1.000 0.080 6 3077805 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs778726488
rs778726488
1 1.000 0.080 19 3778199 missense variant C/G;T snv 1.7E-05 0.700 0
dbSNP: rs780763668
rs780763668
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
1 1.000 0.080 8 47898527 missense variant C/T snv 0.700 0