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: rs540521894
rs540521894
NTRK1
1 1.000 0.040 1 156864760 missense variant C/A;T snv 4.0E-06; 5.6E-05 2.1E-05 0.700 0
dbSNP: rs1879586
rs1879586
PLEKHM1
2 0.925 0.120 17 45489971 intron variant C/G snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs66459581
rs66459581
PRPSAP1
1 1.000 0.040 17 76359184 intron variant C/- del 0.11 0.700 1.000 1 2019 2019
dbSNP: rs11844632
rs11844632
RAD51B
17 0.708 0.280 14 68559662 intron variant G/A snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs2300206
rs2300206
RALY
17 0.708 0.280 20 34002002 intron variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs8037137
rs8037137
RCCD1
8 0.807 0.160 15 90963407 upstream gene variant T/C snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs58722170
rs58722170
RSPO1
2 0.925 0.120 1 37630749 intron variant G/C snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs7207826
rs7207826
SKAP1
2 0.925 0.120 17 48423311 intron variant T/C snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs190220654
rs190220654
SLK
1 1.000 0.040 10 104002988 missense variant G/C snv 1.2E-04 4.2E-05 0.700 0
dbSNP: rs1490428165
rs1490428165
TEK
1 1.000 0.040 9 27209192 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.700 1.000 1 2017 2017
dbSNP: rs7705526
rs7705526
TERT
15 0.776 0.240 5 1285859 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs7725218
rs7725218
TERT
17 0.708 0.280 5 1282299 intron variant G/A snv 0.38 0.700 1.000 1 2016 2016
dbSNP: rs6005807
rs6005807
TTC28 ; LOC101929594
2 0.925 0.120 22 28538325 intron variant T/C snv 0.89 0.700 1.000 1 2017 2017
dbSNP: rs11168936
rs11168936
TUBA1C
17 0.708 0.280 12 49251457 intron variant T/A;C snv 0.700 1.000 1 2016 2016