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: rs1061808
rs1061808
PPT2 ; AGPAT1 ; EGFL8 ; PPT2-EGFL8
2 6 32168770 3 prime UTR variant T/G snv 0.64 0.800 1.000 1 2012 2012
dbSNP: rs11230874
rs11230874 		1 11 62028114 intergenic variant T/G snv 6.9E-02 0.700 1.000 1 2011 2011
dbSNP: rs1321535
rs1321535
ELOVL2-AS1
1 6 11075793 intron variant T/G snv 0.41 0.700 1.000 1 2011 2011
dbSNP: rs1578068
rs1578068
SYCP2L ; LOC101928191
1 6 10937871 intron variant T/G snv 0.24 0.700 1.000 1 2011 2011
dbSNP: rs174478
rs174478
RAB3IL1
2 11 61911104 intron variant T/G snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs2269928
rs2269928
MYRF ; TMEM258
2 11 61770057 intron variant T/G snv 0.18 0.700 1.000 1 2011 2011
dbSNP: rs2521572
rs2521572
RAB3IL1
1 11 61944003 regulatory region variant T/G snv 0.91 0.700 1.000 1 2011 2011
dbSNP: rs545804325
rs545804325
MYO5B
2 18 49940996 intron variant T/G snv 1.4E-03 0.700 1.000 1 2017 2017
dbSNP: rs6675668
rs6675668
ALG14
2 1 95050081 intron variant T/G snv 0.43 0.700 1.000 1 2013 2013
dbSNP: rs7744440
rs7744440
ELOVL2
1 6 11038278 intron variant T/G snv 0.39 0.700 1.000 1 2011 2011
dbSNP: rs911196
rs911196
ELOVL2
1 6 10990518 intron variant T/G snv 0.18 0.700 1.000 1 2011 2011
dbSNP: rs9393804
rs9393804
SYCP2L ; LOC101928191
1 6 10955897 intron variant T/G snv 0.28 0.700 1.000 1 2011 2011
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 1 2011 2011
dbSNP: rs2727261
rs2727261
RAB3IL1
2 11 61944659 regulatory region variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs569258
rs569258
MYRF ; MYRF-AS1
1 11 61753196 intron variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs9586180
rs9586180 		1 13 103407783 intergenic variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs102275
rs102275
TMEM258
18 0.827 0.320 11 61790331 non coding transcript exon variant T/C snv 0.47 0.800 1.000 3 2011 2013
dbSNP: rs780093
rs780093
GCKR
30 0.763 0.240 2 27519736 intron variant T/C snv 0.68 0.700 1.000 2 2011 2013
dbSNP: rs10414689
rs10414689 		2 19 51293045 regulatory region variant T/C snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs10769780
rs10769780
SYT9
1 11 7345864 intron variant T/C snv 0.25 0.800 1.000 1 2012 2012
dbSNP: rs11671319
rs11671319 		3 19 46291810 intergenic variant T/C snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs11671360
rs11671360 		3 19 46291914 intergenic variant T/C snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs12587311
rs12587311 		1 14 28647489 intergenic variant T/C snv 0.53 0.700 1.000 1 2011 2011
dbSNP: rs139368489
rs139368489 		2 18 50502045 intergenic variant T/C snv 5.8E-03 0.700 1.000 1 2017 2017
dbSNP: rs13966
rs13966
RAB3IL1
1 11 61897520 3 prime UTR variant T/C snv 0.53 0.700 1.000 1 2011 2011