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: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 < 0.001 1 2016 2016
dbSNP: rs2342002
rs2342002 		1 1.000 0.080 6 61285855 intergenic variant C/T snv 0.23 0.800 1.000 1 2013 2013
dbSNP: rs62423175
rs62423175 		2 0.925 0.080 6 61485463 intergenic variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs76014404
rs76014404
KHDRBS2
1 1.000 0.080 6 61681634 intron variant AAACA/-;AAACAAAACA delins 0.20 0.700 1.000 1 2016 2016
dbSNP: rs768170742
rs768170742
HLA-A
3 1.000 0.080 6 29943448 frameshift variant ATGA/- del 1.9E-05 0.010 1.000 1 2019 2019
dbSNP: rs9257809
rs9257809
OR5V1 ; OR12D3
10 0.790 0.320 6 29388554 intron variant A/G snv 5.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs17451754
rs17451754
CFTR
2 0.925 0.080 7 117616658 intron variant G/A snv 0.10 0.710 1.000 1 2016 2016
dbSNP: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2011 2011
dbSNP: rs2188554
rs2188554
CFTR ; ASZ1
1 1.000 0.080 7 117400063 intron variant A/G snv 0.20 0.700 1.000 1 2016 2016
dbSNP: rs2971030
rs2971030
LOC105375146
2 0.925 0.080 7 9966714 intron variant C/T snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs10108511
rs10108511
LINC00208
2 0.925 0.080 8 11578007 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs11775256
rs11775256
TNFRSF10A
1 1.000 0.080 8 23193972 intron variant C/T snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs17749155
rs17749155
MSRA
2 0.925 0.080 8 10210563 intron variant G/A snv 0.16 0.700 1.000 1 2016 2016
dbSNP: rs2294008
rs2294008
PSCA ; JRK
28 0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45 0.010 1.000 1 2014 2014
dbSNP: rs11789015
rs11789015
BARX1
6 0.882 0.080 9 93953746 intron variant A/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs199907548
rs199907548
CDKN2A
5 0.882 0.160 9 21974682 missense variant A/C;G snv 6.3E-04 0.010 1.000 1 2012 2012
dbSNP: rs2518720
rs2518720
CDKN2A
2 0.925 0.080 9 21978980 intron variant C/T snv 0.43 0.010 1.000 1 2014 2014
dbSNP: rs3088440
rs3088440
CDKN2A ; CDKN2A-DT
12 0.776 0.240 9 21968160 3 prime UTR variant G/A snv 0.13 0.010 1.000 1 2014 2014
dbSNP: rs3731249
rs3731249
CDKN2A
23 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.010 1.000 1 2012 2012
dbSNP: rs4074785
rs4074785
CDKN2A
1 1.000 0.080 9 21981584 intron variant G/A snv 0.12 0.010 1.000 1 2014 2014
dbSNP: rs4740363
rs4740363
ABL1
1 1.000 0.080 9 130753797 intron variant A/G snv 7.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs7852462
rs7852462
TMOD1
2 0.925 0.080 9 97548219 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs3127075
rs3127075
CASP7
1 1.000 0.080 10 113712354 intron variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.020 0.500 2 2010 2013
dbSNP: rs1247942
rs1247942 		2 0.925 0.080 12 114235918 downstream gene variant G/A;C snv 0.700 1.000 1 2016 2016