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: rs1324694
rs1324694
ERLIN1
2 0.925 0.120 10 100186688 upstream gene variant C/T snv 7.8E-02 0.700 1.000 1 2011 2011
dbSNP: rs13301354
rs13301354
ABCA2 ; FUT7 ; C9orf139
1 1.000 0.080 9 137030185 3 prime UTR variant T/C snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs1332329
rs1332329
LIPA
1 1.000 0.080 10 89243662 intron variant A/C snv 0.38 0.700 1.000 1 2015 2015
dbSNP: rs1333046
rs1333046
CDKN2B-AS1
4 0.925 0.080 9 22124124 intron variant T/A snv 0.43 0.700 1.000 1 2007 2007
dbSNP: rs1333048
rs1333048
CDKN2B-AS1
24 0.683 0.320 9 22125348 intron variant A/C snv 0.44 0.700 1.000 1 2007 2007
dbSNP: rs1544935
rs1544935 		3 0.925 0.160 6 39156672 intergenic variant T/G snv 0.18 0.700 1.000 1 2015 2015
dbSNP: rs1638021
rs1638021
PTPRN2
1 1.000 0.080 7 157645345 intron variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs16880442
rs16880442
ITGA1
2 0.925 0.080 5 52889863 non coding transcript exon variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs16936752
rs16936752
WNK2
2 0.925 0.120 9 93301408 intron variant T/G snv 8.3E-02 0.700 1.000 1 2011 2011
dbSNP: rs16964543
rs16964543
ZNF536
2 1.000 0.080 19 30694303 intron variant T/C snv 0.32 0.700 1.000 1 2015 2015
dbSNP: rs16980013
rs16980013
BHMG1
1 1.000 0.080 19 45764195 3 prime UTR variant G/T snv 0.24 0.700 1.000 1 2011 2011
dbSNP: rs17038082
rs17038082
NUP210
1 1.000 0.080 3 13358775 intron variant G/A snv 3.4E-02 0.700 1.000 1 2011 2011
dbSNP: rs17381591
rs17381591
TRDMT1
1 1.000 0.080 10 17202049 non coding transcript exon variant T/C snv 0.28 0.700 1.000 1 2011 2011
dbSNP: rs17828052
rs17828052
SORCS2
1 1.000 0.080 4 7484048 intron variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs178293
rs178293
LZTR1
1 1.000 0.080 22 20995290 non coding transcript exon variant C/T snv 0.11 0.700 1.000 1 2011 2011
dbSNP: rs1794429
rs1794429
LRPAP1
1 1.000 0.080 4 3531339 intron variant C/T snv 0.68 0.700 1.000 1 2011 2011
dbSNP: rs180803
rs180803
POM121L9P ; BCRP1
2 0.925 0.080 22 24262890 intron variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1870634
rs1870634 		4 0.851 0.080 10 43985363 downstream gene variant T/G snv 0.59 0.700 1.000 1 2015 2015
dbSNP: rs1998055
rs1998055
SLC7A8
1 1.000 0.080 14 23154618 intron variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs2001846
rs2001846 		2 1.000 0.080 8 125466208 upstream gene variant T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs2003334
rs2003334
ALDH1L1 ; SLC41A3 ; ALDH1L1-AS1 ; LOC112267887
1 1.000 0.080 3 126103160 upstream gene variant C/T snv 0.36 0.700 1.000 1 2011 2011
dbSNP: rs201052613
rs201052613 		3 0.882 0.080 1 173026503 intron variant T/-;TT delins 9.4E-03 0.700 1.000 1 2017 2017
dbSNP: rs2011973
rs2011973
TSPAN9
1 1.000 0.080 12 3224412 intron variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2019090
rs2019090 		1 1.000 0.080 11 103798234 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs2073746
rs2073746
ARVCF
1 1.000 0.080 22 19991035 intron variant T/C snv 0.80 0.700 1.000 1 2011 2011