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: 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: 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: rs1933182
rs1933182 		3 1.000 0.080 1 109457216 intergenic variant A/C snv 0.63 0.700 1.000 2 2010 2012
dbSNP: rs491567
rs491567
WDR72
4 1.000 0.080 15 53654396 intron variant A/C snv 0.34 0.700 1.000 2 2010 2012
dbSNP: rs5186
rs5186
AGTR1
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.020 1.000 2 2009 2019
dbSNP: rs626277
rs626277
DACH1
5 1.000 0.080 13 71773564 intron variant A/C snv 0.51 0.700 1.000 2 2010 2012
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: 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: rs3134069
rs3134069
TNFRSF11B ; COLEC10
11 0.776 0.320 8 118952749 upstream gene variant A/C snv 9.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs730882222
rs730882222
SLC13A5
3 0.925 0.040 17 6707026 splice donor variant A/C snv 0.700 0
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: 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: rs775077692
rs775077692
CETP
1 16 56963027 missense variant A/C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 1.000 1 2012 2012
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 2 2010 2012
dbSNP: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 1.000 5 2005 2019
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.040 1.000 4 2000 2019
dbSNP: rs13538
rs13538
NAT8 ; ALMS1P1
5 1.000 0.080 2 73641201 missense variant A/G snv 0.21 0.31 0.700 1.000 2 2010 2012
dbSNP: rs6420094
rs6420094
SLC34A1
5 1.000 0.080 5 177390635 intron variant A/G snv 0.29 0.700 1.000 2 2010 2012
dbSNP: rs73885319
rs73885319
APOL1
6 0.851 0.120 22 36265860 missense variant A/G snv 1.6E-02 6.6E-02 0.020 1.000 2 2016 2018
dbSNP: rs11662622
rs11662622 		2 1.000 0.080 18 65592400 intergenic variant A/G snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs12124078
rs12124078
DNAJC16
3 1 15543404 intron variant A/G snv 0.32 0.700 1.000 1 2012 2012