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: rs28421666
rs28421666 		2 1.000 0.120 6 32624960 upstream gene variant A/G snv 6.9E-02 0.710 1.000 2 2010 2017
dbSNP: rs4977756
rs4977756
CDKN2B-AS1
24 0.683 0.440 9 22068653 intron variant G/A snv 0.64 0.710 1.000 2 2010 2016
dbSNP: rs29230
rs29230
GABBR1
6 0.807 0.440 6 29608616 missense variant A/C;G snv 4.1E-06; 0.18 0.700 1.000 2 2010 2012
dbSNP: rs3131866
rs3131866 		1 1.000 0.120 6 29703963 downstream gene variant G/A snv 0.24 0.700 1.000 2 2009 2010
dbSNP: rs417162
rs417162
HLA-A
2 1.000 0.120 6 29948728 downstream gene variant C/T snv 0.66 0.700 1.000 2 2009 2012
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2013 2015
dbSNP: rs13347
rs13347
CD44
12 0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv 0.020 1.000 2 2013 2014
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.020 1.000 2 2013 2016
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.020 1.000 2 2008 2017
dbSNP: rs2285053
rs2285053
MMP2
15 0.752 0.320 16 55478465 intron variant C/T snv 0.12 0.020 1.000 2 2007 2019
dbSNP: rs2752903
rs2752903
BPIFA1
1 1.000 0.120 20 33235584 upstream gene variant T/C;G snv 0.33 0.020 1.000 2 2012 2017
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.020 1.000 2 2015 2019
dbSNP: rs3813946
rs3813946
CR2
5 0.827 0.280 1 207454348 5 prime UTR variant T/C snv 0.16 0.020 1.000 2 2013 2016
dbSNP: rs402710
rs402710
CLPTM1L
18 0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38 0.020 1.000 2 2012 2016
dbSNP: rs4919510
rs4919510
SEMA4G ; MRPL43 ; MIR608
32 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 0.020 1.000 2 2013 2015
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.020 1.000 2 2013 2014
dbSNP: rs80358259
rs80358259
NPC1
9 0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 0.020 1.000 2 2003 2011
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 0.500 2 2013 2015
dbSNP: rs9258122
rs9258122 		1 1.000 0.120 6 29703963 downstream gene variant G/A snv 0.020 1.000 2 2009 2018
dbSNP: rs2212020
rs2212020
ITGA9
1 1.000 0.120 3 37475971 intron variant C/T snv 0.34 0.710 1.000 1 2009 2009
dbSNP: rs10163267
rs10163267
MLYCD ; OSGIN1 ; LOC105371371
1 1.000 0.120 16 83940313 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs1016343
rs1016343
PCAT1 ; PRNCR1 ; CASC19 ; PCAT2
8 0.807 0.240 8 127081052 non coding transcript exon variant C/T snv 0.20 0.700 1.000 1 2010 2010
dbSNP: rs10411210
rs10411210
RHPN2
13 0.742 0.160 19 33041394 intron variant C/T snv 0.22 0.700 1.000 1 2010 2010
dbSNP: rs10505477
rs10505477
POU5F1B ; CASC8 ; PCAT1
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.700 1.000 1 2010 2010
dbSNP: rs1051730
rs1051730
CHRNA3
43 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.700 1.000 1 2010 2010