Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3847687
rs3847687
12 131040508 intron variant C/A;T snv 0.35
CUI: C0023980
Disease: Longevity
Longevity
0.800 1.000 1 2010 2010
dbSNP: rs11061269
rs11061269
0.851 0.080 12 130971904 intron variant G/A snv 7.5E-02
Amyotrophic Lateral Sclerosis, Sporadic
Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs11061269
rs11061269
0.851 0.080 12 130971904 intron variant G/A snv 7.5E-02
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs11061269
rs11061269
0.851 0.080 12 130971904 intron variant G/A snv 7.5E-02
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
0.700 1.000 1 2014 2014
dbSNP: rs11061269
rs11061269
0.851 0.080 12 130971904 intron variant G/A snv 7.5E-02
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
0.700 1.000 1 2014 2014
dbSNP: rs11833801
rs11833801
12 131076849 missense variant G/A;C snv 6.1E-03; 8.0E-06
High density lipoprotein measurement
0.700 1.000 1 2012 2012
dbSNP: rs11833801
rs11833801
12 131076849 missense variant G/A;C snv 6.1E-03; 8.0E-06
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs1569019
rs1569019
12 131091646 intron variant C/A;T snv 8.1E-02
CUI: C0489786
Disease: Height
Height
0.700 1.000 1 2009 2009
dbSNP: rs1569019
rs1569019
12 131091646 intron variant C/A;T snv 8.1E-02
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2009 2009
dbSNP: rs1976930
rs1976930
12 131091900 intron variant C/T snv 9.0E-02
CUI: C0489786
Disease: Height
Height
0.700 1.000 1 2009 2009
dbSNP: rs7957882
rs7957882
12 131132872 intron variant C/A snv 0.63
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019