Source: CURATED

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: rs4253772
rs4253772
22 46231706 intron variant C/T snv 7.8E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.800 1.000 1 2013 2013
dbSNP: rs4253772
rs4253772
22 46231706 intron variant C/T snv 7.8E-02
Low density lipoprotein cholesterol measurement
0.800 1.000 1 2013 2013
dbSNP: rs4253624
rs4253624
22 46155064 non coding transcript exon variant T/A;C snv
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs4253624
rs4253624
22 46155064 non coding transcript exon variant T/A;C snv
High density lipoprotein measurement
0.700 1.000 1 2012 2012
dbSNP: rs4253642
rs4253642
22 46167520 intron variant A/G snv 7.1E-03
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs4253642
rs4253642
22 46167520 intron variant A/G snv 7.1E-03
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs4253642
rs4253642
22 46167520 intron variant A/G snv 7.1E-03
Low density lipoprotein cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs4253642
rs4253642
22 46167520 intron variant A/G snv 7.1E-03
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs4253642
rs4253642
22 46167520 intron variant A/G snv 7.1E-03
High density lipoprotein measurement
0.700 1.000 1 2012 2012
dbSNP: rs4253755
rs4253755
22 46219479 intron variant G/A snv 8.6E-02
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 1 2019 2019
dbSNP: rs4253755
rs4253755
22 46219479 intron variant G/A snv 8.6E-02
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs4253772
rs4253772
22 46231706 intron variant C/T snv 7.8E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
0.700 1.000 1 2013 2013
dbSNP: rs9626814
rs9626814
1.000 0.080 22 46241357 3 prime UTR variant G/A snv 0.19
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.700 1.000 1 2009 2009
dbSNP: rs1800206
rs1800206
0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02
HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO
0.700 0