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: rs796051881
rs796051881
PEX5
9 0.807 0.440 12 7202274 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs8060632
rs8060632
CDH13
2 16 83591958 intron variant A/C snv 0.68 0.010 1.000 1 2018 2018
dbSNP: rs879253863
rs879253863
TRIM2
4 0.925 0.160 4 153324126 missense variant A/C snv 0.010 1.000 1 2015 2015
dbSNP: rs11541796
rs11541796
TTR
9 0.807 0.280 18 31593011 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs1474642
rs1474642
PSMB1
2 6 170543473 intron variant A/G snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2009 2009
dbSNP: rs492338
rs492338
ABCG1
2 21 42281867 intron variant A/G snv 0.52 0.010 1.000 1 2014 2014
dbSNP: rs587781262
rs587781262
PRPS1
6 0.882 0.240 X 107640938 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs6746030
rs6746030
SCN9A ; SCN1A-AS1
16 0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88 0.010 1.000 1 2017 2017
dbSNP: rs916758
rs916758
DYNC1I1
2 7 96096624 intron variant A/G snv 0.20 0.010 1.000 1 2011 2011
dbSNP: rs1563518388
rs1563518388
PMP2
2 1.000 8 81444908 missense variant A/G snv 0.700 0
dbSNP: rs17748074
rs17748074
DCC
2 18 52420925 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs4553808
rs4553808
CTLA4
28 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs72653786
rs72653786
ABCC6
9 0.882 0.280 16 16178961 missense variant A/G;T snv 0.700 0
dbSNP: rs3887412
rs3887412
ABCC1
2 16 16081173 intron variant A/T snv 0.25 0.010 1.000 1 2010 2010
dbSNP: rs879253869
rs879253869
PMP2
3 0.925 0.080 8 81444935 missense variant A/T snv 0.700 1.000 1 2015 2015
dbSNP: rs958191819
rs958191819
TTR
6 0.851 0.240 18 31595212 missense variant A/T snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs794728588
rs794728588
LMNA
2 1.000 0.040 1 156115262 missense variant A/T snv 0.700 0
dbSNP: rs1556488264
rs1556488264
TYMP ; SCO2
4 0.925 0.120 22 50527165 inframe deletion AGC/- delins 0.700 0
dbSNP: rs765211108
rs765211108
NGLY1
3 1.000 0.080 3 25729208 frameshift variant ATTG/- delins 1.7E-05 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs6552496
rs6552496 		2 4 181371930 intergenic variant C/A snv 0.52 0.010 1.000 1 2018 2018
dbSNP: rs397507478
rs397507478
BRAF
12 0.790 0.440 7 140777014 missense variant C/A snv 0.700 0
dbSNP: rs3750898
rs3750898
DCLRE1A ; LOC107984271
2 10 113850156 missense variant C/A;G snv 4.0E-06; 0.77 0.010 1.000 1 2018 2018
dbSNP: rs28939680
rs28939680
HSPB1
4 0.925 0.080 7 76303841 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs769405586
rs769405586
ABCC6
6 0.925 0.200 16 16178934 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.700 0