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: rs28900396
rs28900396
2 233761914 intron variant T/C snv 6.4E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2012 2012
dbSNP: rs28900402
rs28900402
2 233767766 intron variant C/T snv 2.7E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2012 2012
dbSNP: rs11563251
rs11563251
2 233770738 3 prime UTR variant C/T snv 0.19
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.800 1.000 2 2012 2013
dbSNP: rs35754645
rs35754645
2 233755941 non coding transcript exon variant CTCT/-;CT delins 0.37
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 1 2018 2018
dbSNP: rs11563251
rs11563251
2 233770738 3 prime UTR variant C/T snv 0.19
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
0.700 1.000 1 2013 2013
dbSNP: rs748219743
rs748219743
1.000 0.080 2 233760634 frameshift variant -/A delins
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised
0.700 0
dbSNP: rs887829
rs887829
0.763 0.280 2 233759924 intron variant C/T snv 0.36
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 2 2013 2014
dbSNP: rs10178992
rs10178992
2 233749231 intron variant T/A snv 0.37
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs10179091
rs10179091
2 233749337 intron variant T/C snv 0.49
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs10929301
rs10929301
2 233755003 splice region variant C/G;T snv 0.48
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs10929302
rs10929302
2 233757136 intron variant G/A snv 0.30
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs11673726
rs11673726
2 233755414 non coding transcript exon variant G/A;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs11888459
rs11888459
2 233747994 non coding transcript exon variant T/C snv 0.37
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs11891311
rs11891311
2 233730664 intron variant G/A snv 0.42
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs13009407
rs13009407
2 233743701 non coding transcript exon variant C/A;G;T snv 4.0E-06; 0.22; 4.0E-06
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs17862875
rs17862875
2 233740656 intron variant G/A snv 0.30
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs17864701
rs17864701
2 233744071 intron variant C/T snv 0.30
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs1983023
rs1983023
2 233728376 intron variant T/C snv 0.46
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs2008595
rs2008595
2 233728546 intron variant C/T snv 0.56
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs2018985
rs2018985
2 233740214 intron variant A/G snv 0.47
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs3755319
rs3755319
0.925 0.120 2 233758936 intron variant A/C;G;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs3771341
rs3771341
2 233764593 intron variant G/A;T snv 0.33
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs3806596
rs3806596
2 233729061 intron variant T/C snv 0.56
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs3806597
rs3806597
2 233728923 intron variant A/G snv 0.56
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs4124874
rs4124874
0.851 0.120 2 233757013 intron variant T/A;G snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013