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: rs340874
rs340874
PROX1 ; PROX1-AS1
7 0.882 0.080 1 213985913 non coding transcript exon variant T/C snv 0.40 0.800 1.000 4 2010 2019
dbSNP: rs17407594
rs17407594 		1 1 65704679 intron variant G/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs17712208
rs17712208
PROX1-AS1
2 1 213977102 intron variant T/A snv 2.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs340878
rs340878
PROX1 ; PROX1-AS1
2 1 213983706 intron variant G/C snv 0.63 0.700 1.000 1 2012 2012
dbSNP: rs79687284
rs79687284
PROX1-AS1
1 1 213977478 intron variant G/A;C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs560887
rs560887
SPC25 ; G6PC2
18 0.827 0.120 2 168906638 intron variant T/C snv 0.79 0.80 0.800 1.000 9 2008 2019
dbSNP: rs780094
rs780094
GCKR
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.800 1.000 7 2010 2019
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.800 1.000 5 2012 2019
dbSNP: rs16856247
rs16856247
ABCB11
2 2 168927903 intron variant C/T snv 6.6E-02 0.700 1.000 3 2011 2019
dbSNP: rs895636
rs895636 		2 2 44961214 non coding transcript exon variant C/T snv 0.23 0.700 1.000 3 2011 2018
dbSNP: rs13387347
rs13387347
SPC25
1 2 168898336 intron variant T/C snv 0.49 0.700 1.000 2 2015 2018
dbSNP: rs1371614
rs1371614
DPYSL5
3 2 26930006 intron variant C/T snv 0.29 0.800 1.000 2 2012 2012
dbSNP: rs853789
rs853789
ABCB11
4 2 168944978 intron variant A/G;T snv 0.75 0.800 1.000 2 2012 2018
dbSNP: rs10497345
rs10497345
SPC25
1 2 168878291 intron variant G/C snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs1124649
rs1124649
TMEM214
2 2 27037601 missense variant G/A snv 0.32 0.35 0.700 1.000 1 2012 2012
dbSNP: rs11891554
rs11891554
PPM1G
2 2 27390750 intron variant G/A;T snv 7.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs13023194
rs13023194 		4 0.925 0.120 2 27744393 intergenic variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs13404446
rs13404446
TRIM54
4 0.925 0.120 2 27296386 intron variant G/A snv 0.42 0.700 1.000 1 2012 2012
dbSNP: rs13427272
rs13427272
CTNNA2
1 2 80058810 intron variant G/A snv 5.4E-02 0.700 1.000 1 2009 2009
dbSNP: rs13431652
rs13431652
SPC25
5 0.925 0.080 2 168896905 intron variant T/C snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs1395
rs1395
SLC5A6
4 0.882 0.200 2 27201768 missense variant G/A snv 0.62 0.55 0.700 1.000 1 2015 2015
dbSNP: rs1919128
rs1919128
C2orf16
8 0.882 0.120 2 27578892 missense variant A/G snv 0.30 0.24 0.700 1.000 1 2015 2015
dbSNP: rs2068834
rs2068834
ZNF512
10 0.925 0.120 2 27616672 intron variant T/C snv 0.28 0.700 1.000 1 2012 2012
dbSNP: rs2232326
rs2232326
SPC25 ; G6PC2
3 2 168907981 missense variant T/C snv 5.1E-03 3.3E-03 0.700 1.000 1 2018 2018
dbSNP: rs2305929
rs2305929
MRPL33 ; BABAM2 ; RBKS ; BABAM2-AS1
4 1.000 0.040 2 27891044 intron variant A/G snv 0.14 0.700 1.000 1 2012 2012