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: rs17319721
rs17319721
SHROOM3
5 0.925 0.080 4 76447694 intron variant G/A snv 0.34 0.700 1.000 1 2010 2010
dbSNP: rs174528
rs174528
MYRF ; TMEM258
5 1.000 0.080 11 61776027 intron variant T/C snv 0.42 0.42 0.700 1.000 1 2018 2018
dbSNP: rs174530
rs174530
MYRF ; TMEM258
4 1.000 0.080 11 61779120 non coding transcript exon variant A/G snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs174533
rs174533
MYRF ; TMEM258
18 0.763 0.160 11 61781553 intron variant G/A snv 0.37 0.29 0.700 1.000 1 2018 2018
dbSNP: rs174537
rs174537
MYRF ; TMEM258
23 0.708 0.400 11 61785208 non coding transcript exon variant G/T snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs174541
rs174541
FADS2
8 1.000 0.080 11 61798436 intron variant T/C snv 0.29 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 2018 2018
dbSNP: rs174548
rs174548
FADS1 ; FADS2
17 0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv 0.700 1.000 1 2018 2018
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 2018 2018
dbSNP: rs174554
rs174554
FADS1 ; FADS2
7 1.000 0.080 11 61811991 intron variant A/G snv 0.40 0.28 0.700 1.000 1 2018 2018
dbSNP: rs174557
rs174557
FADS1 ; FADS2
2 1.000 0.080 11 61813896 intron variant A/C;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs174560
rs174560
FADS1 ; FADS2
5 1.000 0.080 11 61814292 non coding transcript exon variant T/C snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs174561
rs174561
FADS1 ; FADS2 ; MIR1908
3 1.000 0.080 11 61815236 5 prime UTR variant T/C snv 0.31 0.26 0.700 1.000 1 2018 2018
dbSNP: rs174562
rs174562
FADS1 ; FADS2
3 1.000 0.080 11 61817672 intron variant A/G snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs174564
rs174564
FADS1 ; FADS2
4 1.000 0.080 11 61820833 intron variant A/G snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs174566
rs174566
FADS1 ; FADS2
8 0.925 0.160 11 61824890 intron variant A/G snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs174567
rs174567
FADS1 ; FADS2
4 1.000 0.080 11 61825533 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs174568
rs174568
FADS1 ; FADS2
4 1.000 0.080 11 61826344 missense variant C/A;T snv 0.37 0.700 1.000 1 2018 2018
dbSNP: rs174574
rs174574
FADS2
7 1.000 0.080 11 61832870 intron variant A/C snv 0.55 0.700 1.000 1 2018 2018
dbSNP: rs174576
rs174576
FADS2
14 0.851 0.200 11 61836038 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs174578
rs174578
FADS2
3 1.000 0.080 11 61838027 intron variant T/A snv 0.38 0.700 1.000 1 2018 2018
dbSNP: rs174580
rs174580
FADS2
4 1.000 0.080 11 61839170 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs174581
rs174581
FADS2
4 0.925 0.160 11 61839211 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs174583
rs174583
FADS2
16 0.807 0.320 11 61842278 intron variant C/T snv 0.35 0.700 1.000 1 2018 2018
dbSNP: rs174592
rs174592
FADS2
4 1.000 0.080 11 61851136 intron variant A/G snv 0.44 0.700 1.000 1 2018 2018