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: rs7587476
rs7587476
BARD1
1 1.000 0.040 2 214789163 intron variant T/A;C snv 0.800 1.000 2 2009 2012
dbSNP: rs775144154
rs775144154
SLC19A1
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.020 1.000 2 2014 2015
dbSNP: rs863225285
rs863225285
ALK
5 0.851 0.080 2 29209789 missense variant T/G snv 0.020 1.000 2 2017 2018
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs1045485
rs1045485
CASP8
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.010 1.000 1 2014 2014
dbSNP: rs10483277
rs10483277
LOC105370401 ; LOC112267867
1 1.000 0.040 14 22471852 intron variant C/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs104893855
rs104893855
PHOX2B ; PHOX2B-AS1
4 0.851 0.160 4 41747479 missense variant C/A snv 0.010 1.000 1 2014 2014
dbSNP: rs104893856
rs104893856
PHOX2B
6 0.827 0.080 4 41746162 missense variant C/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs104893936
rs104893936
SNCB
4 0.851 0.120 5 176626472 missense variant C/G;T snv 5.6E-05 0.010 1.000 1 2007 2007
dbSNP: rs104894103
rs104894103
APTX
6 0.807 0.280 9 32974495 stop gained C/G;T snv 4.0E-06; 1.6E-04 0.010 1.000 1 2015 2015
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs1057519697
rs1057519697
ALK
12 0.776 0.120 2 29220830 missense variant A/C snv 0.010 1.000 1 2011 2011
dbSNP: rs1057520018
rs1057520018
STK11
6 0.807 0.080 19 1223124 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1059111
rs1059111
NEFL
5 0.827 0.200 8 24952575 3 prime UTR variant T/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2019 2019
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2019 2019
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs11579261
rs11579261 		1 1.000 0.040 1 143544453 intron variant T/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs11848747
rs11848747
LOC105370401
1 1.000 0.040 14 22452288 intron variant G/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs1211164799
rs1211164799
DLX4
3 0.882 0.080 17 49973938 missense variant A/T snv 0.010 1.000 1 1998 1998
dbSNP: rs121908513
rs121908513
SPAST
6 0.807 0.280 2 32116145 missense variant T/A snv 0.010 1.000 1 2018 2018
dbSNP: rs121908531
rs121908531
DNM1L ; YARS2
4 0.851 0.080 12 32731118 missense variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs121909539
rs121909539
ANG ; RNASE4
5 0.827 0.120 14 20693753 missense variant C/G snv 0.010 1.000 1 2019 2019
dbSNP: rs121912452
rs121912452
SOD1
6 0.807 0.120 21 31667271 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs121912651
rs121912651
TP53
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2008 2008