Source: GWASDB

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1905248
rs1905248
SCN8A
1.000 0.080 12 51613219 intron variant A/G snv 0.62
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.700 1.000 1 2007 2007
dbSNP: rs1971791
rs1971791 		1.000 0.080 15 70283799 intergenic variant G/A snv 0.45
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.800 1.000 1 2013 2013
dbSNP: rs1977661
rs1977661
MOB3B
1.000 0.080 9 27502988 intron variant C/A snv 0.12
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.700 1.000 1 2013 2013
dbSNP: rs1982915
rs1982915 		1.000 0.080 9 27579562 intergenic variant A/G snv 0.48
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.700 1.000 1 2013 2013
dbSNP: rs2006933
rs2006933
LOC101926984
1.000 0.080 17 28274107 upstream gene variant T/G snv 0.23
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.800 1.000 1 2013 2013
dbSNP: rs2225389
rs2225389
MOB3B
1.000 0.080 9 27409266 intron variant T/G snv 7.6E-02
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.700 1.000 1 2010 2010
dbSNP: rs2282240
rs2282240
C9orf72
1.000 0.080 9 27572636 intron variant C/T snv 0.23
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.700 1.000 1 2013 2013
dbSNP: rs2282241
rs2282241
C9orf72
1.000 0.080 9 27572257 intron variant C/A snv 0.38
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.700 1.000 1 2013 2013
dbSNP: rs2303565
rs2303565
STK36
1.000 0.080 2 218680586 intron variant T/C snv 0.43 0.56
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.800 1.000 1 2013 2013
dbSNP: rs2453556
rs2453556 		1.000 0.080 9 27586164 intergenic variant A/G snv 0.46
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.700 1.000 1 2013 2013
dbSNP: rs2477518
rs2477518 		1.000 0.080 9 27599748 intergenic variant T/C snv 0.47
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.700 1.000 1 2013 2013
dbSNP: rs2708909
rs2708909
SUN3
1.000 0.080 7 48012082 intron variant G/T snv 0.42
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.700 1.000 1 2009 2009
dbSNP: rs2814707
rs2814707
C9orf72 ; LOC107987057 ; LOC112268043
0.882 0.120 9 27536399 non coding transcript exon variant C/G;T snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.830 1.000 3 2009 2014
dbSNP: rs284793
rs284793 		1.000 0.080 4 99409137 downstream gene variant G/A snv 0.26
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.700 1.000 1 2007 2007
dbSNP: rs3113494
rs3113494 		1.000 0.080 4 86911448 intron variant G/A snv 0.40
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.810 1.000 1 2012 2012
dbSNP: rs3806873
rs3806873
ICE1
1.000 0.080 5 5462494 missense variant A/G snv 7.0E-02 3.4E-02
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.700 1.000 1 2013 2013
dbSNP: rs3849942
rs3849942
C9orf72 ; LOC107987057
0.776 0.200 9 27543283 non coding transcript exon variant T/A;C snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.870 1.000 5 2009 2018
dbSNP: rs4363506
rs4363506 		1.000 0.080 10 127476239 intergenic variant T/C snv 0.41
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.810 1.000 1 2007 2009
dbSNP: rs4568225
rs4568225
PPARGC1A
1.000 0.080 4 23896807 intron variant C/T snv 0.22
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.700 1.000 1 2007 2007
dbSNP: rs4879515
rs4879515
MOB3B
1.000 0.080 9 27482237 intron variant C/T snv 0.49
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.700 1.000 1 2013 2013
dbSNP: rs5937496
rs5937496 		1.000 0.080 X 76127599 regulatory region variant G/A snv 0.16
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.800 1.000 1 2009 2009
dbSNP: rs60242496
rs60242496
C9orf72
1.000 0.080 9 27572636 intron variant -/GGAAAGTGCAGGACCTCCCTCCTG delins
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.700 1.000 1 2013 2013
dbSNP: rs6703183
rs6703183
LOC105372898
0.925 0.080 1 209539544 intron variant T/C snv 0.48
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.810 1.000 1 2013 2013
dbSNP: rs7046653
rs7046653
MOB3B
1.000 0.080 9 27490969 intron variant A/G;T snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.700 1.000 2 2010 2013
dbSNP: rs7477
rs7477
PIGL ; CENPV
1.000 0.080 17 16342702 3 prime UTR variant A/C snv 0.38
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.810 1.000 1 2013 2014