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: rs10502435
rs10502435
GREB1L
1 18 21527130 downstream gene variant C/T snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs17254590
rs17254590 		2 13 106384996 downstream gene variant G/C snv 2.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs3762220
rs3762220 		2 20 18797336 upstream gene variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs17003443
rs17003443 		1 4 78749373 TF binding site variant C/T snv 6.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs11119805
rs11119805
LPGAT1
2 1 211744902 3 prime UTR variant T/A snv 0.13 0.700 1.000 1 2013 2013
dbSNP: rs1468510
rs1468510
NUB1
1 7 151360599 3 prime UTR variant A/G snv 4.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs174545
rs174545
FADS1 ; FADS2
5 1.000 0.080 11 61801834 3 prime UTR variant C/A;G snv 0.28 0.700 1.000 1 2015 2015
dbSNP: rs4246215
rs4246215
FEN1 ; FADS2
29 0.677 0.320 11 61796827 3 prime UTR variant G/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs8523
rs8523
ELOVL2
2 6 10980820 3 prime UTR variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs174549
rs174549
FADS1 ; FADS2
12 0.851 0.240 11 61803910 5 prime UTR variant G/A snv 0.26 0.700 1.000 1 2015 2015
dbSNP: rs174550
rs174550
FADS1 ; FADS2
13 0.925 0.160 11 61804006 5 prime UTR variant T/C snv 0.28 0.700 1.000 1 2015 2015
dbSNP: rs973730
rs973730
ESCO1
1 18 21573533 synonymous variant C/T snv 0.84 0.83 0.700 1.000 1 2018 2018
dbSNP: rs102275
rs102275
TMEM258
18 0.827 0.320 11 61790331 non coding transcript exon variant T/C snv 0.47 0.700 1.000 1 2013 2013
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: rs174601
rs174601
FADS2
12 0.925 0.080 11 61855668 non coding transcript exon variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs7611820
rs7611820
SLC7A14-AS1
1 3 170654068 non coding transcript exon variant G/A snv 0.22 0.700 1.000 1 2017 2017
dbSNP: rs174535
rs174535
MYRF ; TMEM258
19 0.776 0.280 11 61783884 missense variant T/A;C;G snv 0.38 0.32 0.700 1.000 1 2015 2015
dbSNP: rs3811444
rs3811444
TRIM58
12 1 247876149 missense variant C/T snv 0.31 0.26 0.700 1.000 1 2015 2015
dbSNP: rs10414689
rs10414689 		2 19 51293045 regulatory region variant T/C snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs10518201
rs10518201
LOC101928893
1 4 78730706 regulatory region variant A/G snv 6.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs12648219
rs12648219
LOC101928893
1 4 78734132 regulatory region variant A/G snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs4432766
rs4432766 		1 4 78751385 regulatory region variant T/A snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs6839280
rs6839280
LOC101928893
1 4 78736218 regulatory region variant T/C snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs6857679
rs6857679
LOC101928893
1 4 78736206 regulatory region variant C/T snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs727760
rs727760
LOC101928893
1 4 78738610 regulatory region variant A/G snv 0.17 0.700 1.000 1 2018 2018