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: rs118048115
rs118048115
PLPP4
1 1.000 0.080 10 120519964 intron variant A/T snv 1.2E-02 0.800 1.000 1 2014 2014
dbSNP: rs11983798
rs11983798
ATXN7L1
1 1.000 0.080 7 105640741 intron variant G/A snv 7.5E-02 0.800 1.000 1 2012 2012
dbSNP: rs12091371
rs12091371
FMN2
1 1.000 0.080 1 240441752 intron variant G/A snv 0.18 0.800 1.000 1 2014 2014
dbSNP: rs12361953
rs12361953
LUZP2
1 1.000 0.080 11 24589584 intron variant C/G;T snv 0.800 1.000 1 2012 2012
dbSNP: rs12808148
rs12808148
MMP12
1 1.000 0.080 11 102862432 downstream gene variant T/C snv 0.12 0.800 1.000 1 2012 2012
dbSNP: rs13178362
rs13178362 		1 1.000 0.080 5 30178906 intergenic variant T/C snv 0.17 0.800 1.000 1 2014 2014
dbSNP: rs1399439
rs1399439
ANO4
1 1.000 0.080 12 100827461 intron variant A/G snv 3.7E-02 0.800 1.000 1 2014 2014
dbSNP: rs143258881
rs143258881
GPC6
1 1.000 0.080 13 93293605 intron variant A/T snv 1.5E-02 0.800 1.000 1 2014 2014
dbSNP: rs143954261
rs143954261
MEGF10
1 1.000 0.080 5 127393758 intron variant G/C snv 2.6E-02 0.800 1.000 1 2014 2014
dbSNP: rs145848414
rs145848414 		1 1.000 0.080 5 174587111 intergenic variant G/A snv 1.2E-02 0.800 1.000 1 2013 2013
dbSNP: rs146579248
rs146579248
LINC01184
1 1.000 0.080 5 128046610 intron variant C/T snv 2.1E-02 0.800 1.000 1 2014 2014
dbSNP: rs147845115
rs147845115
SLC4A8
1 1.000 0.080 12 51484976 intron variant G/A snv 1.6E-02 0.800 1.000 1 2014 2014
dbSNP: rs148763909
rs148763909
SAP30L
1 1.000 0.080 5 154457546 3 prime UTR variant C/T snv 1.9E-02 0.800 1.000 1 2014 2014
dbSNP: rs1532278
rs1532278
CLU
2 0.925 0.080 8 27608798 non coding transcript exon variant T/C snv 0.68 0.800 1.000 1 2011 2011
dbSNP: rs17169634
rs17169634
BMPER
1 1.000 0.080 7 34054385 intron variant A/G snv 0.17 0.800 1.000 1 2014 2014
dbSNP: rs17172199
rs17172199
HECW1
1 1.000 0.080 7 43337677 intron variant A/C snv 5.2E-02 0.800 1.000 1 2014 2014
dbSNP: rs17393344
rs17393344
MYO16
1 1.000 0.080 13 108821598 intron variant G/A snv 2.4E-02 0.800 1.000 1 2014 2014
dbSNP: rs17817600
rs17817600
PICALM
1 1.000 0.080 11 85966428 intron variant A/G snv 9.7E-02 0.800 1.000 1 2012 2012
dbSNP: rs1861525
rs1861525
CYCS
1 1.000 0.080 7 25121983 3 prime UTR variant A/G snv 3.2E-02 0.800 1.000 1 2014 2014
dbSNP: rs190982
rs190982
MEF2C-AS1
2 0.925 0.080 5 88927603 intron variant G/A snv 0.72 0.800 1.000 1 2013 2013
dbSNP: rs1925690
rs1925690
ZNF292
1 1.000 0.080 6 87157345 intron variant T/A;C snv 0.800 1.000 1 2011 2011
dbSNP: rs2337406
rs2337406 		1 1.000 0.080 14 106772332 upstream gene variant C/A;G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs2392492
rs2392492
ELMO1
1 1.000 0.080 7 37325592 intron variant G/A snv 3.8E-02 0.800 1.000 1 2014 2014
dbSNP: rs2421847
rs2421847
PRRC2C
1 1.000 0.080 1 171588461 missense variant A/G snv 3.3E-02 2.8E-02 0.800 1.000 1 2014 2014
dbSNP: rs249153
rs249153
NDUFA12
1 1.000 0.080 12 94930613 intron variant T/C snv 0.23 0.800 1.000 1 2014 2014