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: rs5754227
rs5754227
SYN3
4 0.851 0.040 22 32709831 intron variant T/C snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs5817082
rs5817082
CETP
4 0.851 0.040 16 56963437 intron variant -/A delins 0.700 1.000 1 2016 2016
dbSNP: rs61818925
rs61818925 		4 0.851 0.040 1 196846320 upstream gene variant T/G snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs61985136
rs61985136
RAD51B
4 0.851 0.040 14 68302482 intron variant C/T snv 0.52 0.700 1.000 1 2016 2016
dbSNP: rs62247658
rs62247658
ADAMTS9-AS2
4 0.851 0.040 3 64729479 intron variant C/T snv 0.42 0.700 1.000 1 2016 2016
dbSNP: rs6565597
rs6565597
NPLOC4
4 0.851 0.040 17 81559795 intron variant C/T snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs67538026
rs67538026
CNN2
4 0.851 0.040 19 1031439 intron variant C/T snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs71507014
rs71507014
TRPM3
4 0.851 0.040 9 70823689 intron variant -/C;CC delins 0.700 1.000 1 2016 2016
dbSNP: rs7803454
rs7803454
PILRA
4 0.851 0.040 7 100393925 intron variant C/T snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs8135665
rs8135665
SLC16A8 ; LOC105373027
4 0.851 0.040 22 38080269 intron variant C/T snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs9564692
rs9564692
B3GLCT
4 0.851 0.040 13 31247103 splice region variant C/T snv 0.40 0.36 0.700 1.000 1 2016 2016
dbSNP: rs9621532
rs9621532
SYN3
4 0.851 0.040 22 32688525 intron variant A/C snv 5.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs11080055
rs11080055
TMEM97
5 0.851 0.040 17 28322698 intron variant A/C snv 0.54 0.700 1.000 1 2016 2016
dbSNP: rs114254831
rs114254831
PBX2
5 0.827 0.040 6 32187804 intron variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs116503776
rs116503776
CYP21A2 ; SKIV2L
5 0.827 0.040 6 31962685 intron variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs148060787
rs148060787
FTH1 ; BEST1
5 0.851 0.080 11 61962853 missense variant C/G;T snv 4.4E-04 0.010 1.000 1 2001 2001
dbSNP: rs1626340
rs1626340 		5 0.827 0.120 9 99161090 intergenic variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1800995
rs1800995
BEST1 ; LOC107984334
5 0.851 0.080 11 61955906 missense variant GC/AA mnv 0.010 1.000 1 2001 2001
dbSNP: rs1805142
rs1805142
BEST1 ; LOC107984334
5 0.851 0.080 11 61955825 stop gained G/C;T snv 2.7E-05 0.010 1.000 1 2001 2001
dbSNP: rs281865275
rs281865275
BEST1 ; LOC107984334
5 0.851 0.080 11 61957397 missense variant C/G;T snv 8.0E-06; 2.8E-05 0.010 1.000 1 2001 2001
dbSNP: rs3138141
rs3138141
RDH5 ; BLOC1S1-RDH5
5 0.827 0.040 12 55721994 3 prime UTR variant C/A snv 0.19 0.16 0.700 1.000 1 2016 2016
dbSNP: rs61941274
rs61941274
ACAD10
5 0.827 0.160 12 111694806 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs62358361
rs62358361
C9
5 0.851 0.040 5 39327786 intron variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs72802342
rs72802342 		5 0.851 0.040 16 75200974 downstream gene variant C/A snv 6.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs73036519
rs73036519
MARK4 ; EXOC3L2
5 0.851 0.040 19 45245104 intron variant G/A;C snv 0.700 1.000 1 2016 2016