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: rs142815467
rs142815467 		3 19 46291277 intergenic variant -/T delins 0.12 0.700 1.000 1 2017 2017
dbSNP: rs1077989
rs1077989
GPHN ; TMEM229B
3 1.000 0.080 14 67509105 intron variant A/C snv 0.39 0.800 1.000 1 2012 2012
dbSNP: rs146524044
rs146524044
MYO5B
2 18 50057046 intron variant A/C snv 1.0E-03 0.700 1.000 1 2017 2017
dbSNP: rs174536
rs174536
MYRF ; TMEM258
3 11 61784455 non coding transcript exon variant A/C snv 0.29 0.700 1.000 1 2011 2011
dbSNP: rs174574
rs174574
FADS2
7 1.000 0.080 11 61832870 intron variant A/C snv 0.55 0.700 1.000 1 2011 2011
dbSNP: rs17764682
rs17764682
ELOVL2-AS1
1 6 11058582 intron variant A/C snv 0.24 0.700 1.000 1 2011 2011
dbSNP: rs2391388
rs2391388
ALG14
2 1 95020269 intron variant A/C snv 0.49 0.700 1.000 1 2013 2013
dbSNP: rs3798721
rs3798721
ELOVL2
1 6 11039950 intron variant A/C snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs6671200
rs6671200
TLCD4-RWDD3 ; LOC101928118
2 1 95231973 intron variant A/C snv 0.90 0.700 1.000 1 2013 2013
dbSNP: rs73059723
rs73059723 		3 19 46293245 upstream gene variant A/C snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs17148090
rs17148090
DLG2
1 11 85306432 intron variant A/C;G snv 7.4E-02 0.800 1.000 1 2012 2012
dbSNP: rs17764592
rs17764592
ELOVL2
1 6 11002911 intron variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs10792320
rs10792320 		1 11 61978819 intergenic variant A/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs7394871
rs7394871
FADS3
2 11 61885042 intron variant A/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1000778
rs1000778
FADS3
3 1.000 0.040 11 61887833 intron variant A/G snv 0.59 0.700 1.000 1 2011 2011
dbSNP: rs10885997
rs10885997
PNLIPRP2
2 10 116638460 synonymous variant A/G snv 0.38 0.36 0.800 1.000 1 2012 2012
dbSNP: rs11190604
rs11190604
HIF1AN
2 10 100542700 intron variant A/G snv 0.19 0.700 1.000 1 2013 2013
dbSNP: rs1145652
rs1145652 		1 5 165337081 intergenic variant A/G snv 9.6E-02 0.700 1.000 1 2011 2011
dbSNP: rs117366905
rs117366905 		3 19 46294033 upstream gene variant A/G snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs117992292
rs117992292 		3 19 46294038 upstream gene variant A/G snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs12098564
rs12098564
LINC01519
2 10 85193571 non coding transcript exon variant A/G snv 7.4E-02 0.700 1.000 1 2013 2013
dbSNP: rs1225736
rs1225736
SYCP2L ; LOC101928191
1 6 10939156 intron variant A/G snv 0.24 0.700 1.000 1 2011 2011
dbSNP: rs1260333
rs1260333 		12 0.882 0.160 2 27525757 downstream gene variant A/G snv 0.58 0.700 1.000 1 2011 2011
dbSNP: rs138572223
rs138572223 		2 18 50446052 intergenic variant A/G snv 5.7E-03 0.700 1.000 1 2017 2017
dbSNP: rs1535
rs1535
FADS2
24 0.752 0.240 11 61830500 intron variant A/G snv 0.31 0.700 1.000 1 2011 2011