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: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 91 2004 2020
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs121913366
rs121913366
BRAF
12 0.763 0.400 7 140753345 missense variant A/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs993022333
rs993022333
KIT
5 0.851 0.080 4 54733173 missense variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1024708183
rs1024708183
MAP2K7
4 0.925 0.040 19 7909761 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs397517132
rs397517132
EGFR
48 0.623 0.280 7 55191846 missense variant A/T snv 0.030 1.000 3 2015 2019
dbSNP: rs121913227
rs121913227
BRAF
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.090 1.000 9 2012 2018
dbSNP: rs121913368
rs121913368
BRAF
2 0.925 0.040 7 140753345 missense variant AG/GA mnv 0.020 1.000 2 2012 2018
dbSNP: rs745382803
rs745382803
MITF
1 1.000 0.040 3 69965076 missense variant C/A;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121913355
rs121913355
BRAF
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121913378
rs121913378
BRAF
11 0.776 0.280 7 140753337 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs374713701
rs374713701
TTN ; TTN-AS1
1 1.000 0.040 2 178593660 missense variant C/A;T snv 4.0E-06; 8.1E-06 0.700 0
dbSNP: rs104894095
rs104894095
CDKN2A
6 0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs267605306
rs267605306
PKN1
1 1.000 0.040 19 14446504 missense variant C/G;T snv 1.6E-05 0.700 0
dbSNP: rs564777385
rs564777385
TTN
1 1.000 0.040 2 178800635 missense variant C/G;T snv 3.6E-05 0.700 0
dbSNP: rs750697353
rs750697353
RAF1
4 0.882 0.080 3 12608919 missense variant C/T snv 1.2E-05 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs1204056923
rs1204056923
TTN ; TTN-AS1
1 1.000 0.040 2 178590160 missense variant C/T snv 1.4E-05 0.700 0
dbSNP: rs1277219458
rs1277219458
PASK
1 1.000 0.040 2 241143002 missense variant C/T snv 0.700 0
dbSNP: rs1458591077
rs1458591077
TTN ; TTN-AS1
1 1.000 0.040 2 178630352 missense variant C/T snv 0.700 0
dbSNP: rs1484691555
rs1484691555
PAK5
1 1.000 0.040 20 9539512 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs267599092
rs267599092
TTN ; TTN-AS1 ; LOC101927055
1 1.000 0.040 2 178779043 missense variant C/T snv 0.700 0
dbSNP: rs267600891
rs267600891
RPS6KA2
1 1.000 0.040 6 166469882 missense variant C/T snv 0.700 0
dbSNP: rs267601046
rs267601046
TTBK1 ; LOC105375064
1 1.000 0.040 6 43283303 missense variant C/T snv 0.700 0
dbSNP: rs375422359
rs375422359
TTN ; TTN-AS1
1 1.000 0.040 2 178563634 missense variant C/T snv 2.4E-05 3.5E-05 0.700 0