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: rs7335046
rs7335046 		7 0.807 0.040 13 99389484 downstream gene variant G/C snv 0.80 0.010 1.000 1 2011 2011
dbSNP: rs1269304342
rs1269304342
HPS1
1 1.000 0.040 10 98425560 missense variant C/T snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs6465657
rs6465657
LMTK2
7 0.807 0.280 7 98187015 intron variant C/T snv 0.41 0.37 0.010 1.000 1 2011 2011
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2012 2012
dbSNP: rs781198499
rs781198499
CAST ; ERAP1
1 1.000 0.040 5 96765321 missense variant T/A;C snv 7.1E-06 0.010 1.000 1 2013 2013
dbSNP: rs1334613121
rs1334613121
PRIMA1
3 0.925 0.080 14 93787688 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs10852628
rs10852628
DBNDD1
1 1.000 0.040 16 90013519 intron variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs8059973
rs8059973
DBNDD1
1 1.000 0.040 16 90013126 intron variant A/G snv 0.78 0.700 1.000 1 2012 2012
dbSNP: rs11076650
rs11076650
AFG3L1P
1 1.000 0.040 16 90001533 non coding transcript exon variant G/A snv 0.49 0.700 1.000 1 2011 2011
dbSNP: rs4785763
rs4785763
AFG3L1P
3 0.925 0.120 16 90000528 non coding transcript exon variant A/C;T snv 0.800 1.000 2 2009 2017
dbSNP: rs4785759
rs4785759
AFG3L1P
1 1.000 0.040 16 89984472 intron variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs4238833
rs4238833
AFG3L1P
2 1.000 0.040 16 89984281 intron variant G/T snv 0.60 0.700 1.000 2 2011 2012
dbSNP: rs1063045
rs1063045
NBN
1 1.000 0.040 8 89982791 synonymous variant C/T snv 0.35 0.33 0.010 1.000 1 2007 2007
dbSNP: rs11648898
rs11648898
AFG3L1P
1 1.000 0.040 16 89979578 non coding transcript exon variant A/G snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs4408545
rs4408545
AFG3L1P
2 1.000 0.040 16 89977620 non coding transcript exon variant C/G;T snv 0.40 0.700 1.000 1 2011 2011
dbSNP: rs34767364
rs34767364
NBN
20 0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 0.010 1.000 1 2004 2004
dbSNP: rs4785752
rs4785752 		2 1.000 0.040 16 89968733 upstream gene variant A/G snv 0.42 0.700 1.000 1 2011 2011
dbSNP: rs4785751
rs4785751
DEF8
1 1.000 0.040 16 89963009 intron variant G/A snv 0.37 0.700 1.000 1 2011 2011
dbSNP: rs867185
rs867185
NBN
1 1.000 0.040 8 89962922 intron variant G/A snv 0.51 0.010 1.000 1 2007 2007
dbSNP: rs8051733
rs8051733
DEF8
1 1.000 0.040 16 89957798 intron variant A/G snv 0.30 0.700 1.000 1 2011 2011
dbSNP: rs7195043
rs7195043
DEF8
1 1.000 0.040 16 89954453 intron variant C/T snv 0.58 0.700 1.000 1 2011 2011
dbSNP: rs9995
rs9995
OSGIN2 ; NBN
1 1.000 0.040 8 89933828 3 prime UTR variant A/G snv 0.32 0.010 1.000 1 2007 2007
dbSNP: rs1805009
rs1805009
MC1R ; TUBB3
9 0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03 0.070 0.857 7 2001 2018
dbSNP: rs371055548
rs371055548
MC1R
2 0.925 0.080 16 89919798 synonymous variant C/T snv 2.4E-05 2.1E-05 0.010 1.000 1 2013 2013
dbSNP: rs885479
rs885479
MC1R
16 0.732 0.280 16 89919746 missense variant G/A snv 0.15 8.3E-02 0.070 0.714 7 2001 2019