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: rs112329286
rs112329286
SYNE2
4 1.000 0.080 14 63773159 intron variant -/ATTT delins 0.24 0.700 1.000 1 2018 2018
dbSNP: rs59834205
rs59834205
SLC2A9
3 0.882 0.200 4 9959396 intron variant -/GA delins 1.1E-04 0.700 1.000 1 2018 2018
dbSNP: rs35473591
rs35473591
FADS1 ; FADS2
2 1.000 0.080 11 61818856 intron variant -/T delins 0.28 0.700 1.000 1 2018 2018
dbSNP: rs16347
rs16347
IL1A
2 0.925 0.080 2 112774138 3 prime UTR variant -/TGAA delins 0.70 0.010 1.000 1 2003 2003
dbSNP: rs5792235
rs5792235
FADS1 ; FADS2
2 1.000 0.080 11 61828851 intron variant A/- delins 0.30 0.700 1.000 1 2018 2018
dbSNP: rs5186
rs5186
AGTR1
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.030 1.000 3 2009 2019
dbSNP: rs1077989
rs1077989
GPHN ; TMEM229B
3 1.000 0.080 14 67509105 intron variant A/C snv 0.39 0.700 1.000 1 2018 2018
dbSNP: rs117329947
rs117329947
C12orf75 ; LOC105369957
1 1.000 0.080 12 105391125 intron variant A/C snv 2.2E-02 0.700 1.000 1 2019 2019
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: rs1933182
rs1933182 		3 1.000 0.080 1 109457216 intergenic variant A/C snv 0.63 0.700 1.000 1 2010 2010
dbSNP: rs2490391
rs2490391
SDCCAG8
2 1.000 0.080 1 243306367 3 prime UTR variant A/C snv 0.50 0.700 1.000 1 2019 2019
dbSNP: rs491567
rs491567
WDR72
4 1.000 0.080 15 53654396 intron variant A/C snv 0.34 0.700 1.000 1 2010 2010
dbSNP: rs626277
rs626277
DACH1
5 1.000 0.080 13 71773564 intron variant A/C snv 0.51 0.700 1.000 1 2010 2010
dbSNP: rs730947
rs730947 		2 0.925 0.080 2 218838575 upstream gene variant A/C snv 1.0E-01 0.010 1.000 1 2010 2010
dbSNP: rs75444904
rs75444904
HPR ; TXNL4B
4 0.851 0.160 16 72061751 intron variant A/C snv 2.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs1044498
rs1044498
ENPP1
15 0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 0.010 < 0.001 1 2008 2008
dbSNP: rs12137135
rs12137135 		2 0.925 0.080 1 22348728 intergenic variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs145640112
rs145640112
KLKB1
2 0.925 0.080 4 186250267 missense variant A/C;G snv 1.8E-04; 4.0E-06 0.010 1.000 1 2000 2000
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: rs1989248
rs1989248 		1 1.000 0.080 7 148443990 upstream gene variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs28456
rs28456
FADS1 ; FADS2
5 0.925 0.120 11 61822009 intron variant A/C;G snv 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: rs4744712
rs4744712
PIP5K1B
4 1.000 0.080 9 68819791 intron variant A/C;T snv 0.700 1.000 1 2010 2010
dbSNP: rs594442
rs594442 		1 1.000 0.080 6 93138166 intergenic variant A/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.833 12 1999 2014