DGKD, diacylglycerol kinase delta, 8527

N. diseases: 18; N. variants: 37
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: rs2305542
rs2305542
2 233445599 intron variant G/A snv 0.20 0.30
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result
0.700 1.000 1 2009 2009
dbSNP: rs2305542
rs2305542
2 233445599 intron variant G/A snv 0.20 0.30
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
0.700 1.000 1 2009 2009
dbSNP: rs2924808
rs2924808
2 233421170 intron variant G/C snv 0.26
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
0.700 1.000 1 2009 2009
dbSNP: rs2924808
rs2924808
2 233421170 intron variant G/C snv 0.26
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result
0.700 1.000 1 2009 2009
dbSNP: rs34339006
rs34339006
1.000 0.040 2 233362876 intron variant C/T snv 0.32
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle
Eye Diseases 0.700 1.000 1 2018 2018
dbSNP: rs34339006
rs34339006
1.000 0.040 2 233362876 intron variant C/T snv 0.32
CUI: C0201925
Disease: Calcium measurement
Calcium measurement
0.700 1.000 1 2018 2018
dbSNP: rs3754595
rs3754595
2 233461779 intron variant A/G snv 0.17
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result
0.700 1.000 1 2009 2009
dbSNP: rs3754595
rs3754595
2 233461779 intron variant A/G snv 0.17
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
0.700 1.000 1 2009 2009
dbSNP: rs3820744
rs3820744
2 233452902 intron variant T/C snv 0.12
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
0.700 1.000 1 2009 2009
dbSNP: rs3820744
rs3820744
2 233452902 intron variant T/C snv 0.12
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result
0.700 1.000 1 2009 2009
dbSNP: rs6714168
rs6714168
2 233431353 intron variant A/G snv 0.31
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
0.700 1.000 1 2009 2009
dbSNP: rs6714168
rs6714168
2 233431353 intron variant A/G snv 0.31
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result
0.700 1.000 1 2009 2009
dbSNP: rs6722763
rs6722763
2 233373564 intron variant A/C;G snv
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result
0.700 1.000 1 2009 2009
dbSNP: rs6722763
rs6722763
2 233373564 intron variant A/C;G snv
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
0.700 1.000 1 2009 2009
dbSNP: rs6753242
rs6753242
2 233420773 intron variant G/A;T snv 0.11
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result
0.700 1.000 1 2009 2009
dbSNP: rs6753242
rs6753242
2 233420773 intron variant G/A;T snv 0.11
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
0.700 1.000 1 2009 2009
dbSNP: rs6759246
rs6759246
2 233372793 intron variant G/C snv 0.22
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
0.700 1.000 1 2009 2009
dbSNP: rs6759246
rs6759246
2 233372793 intron variant G/C snv 0.22
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result
0.700 1.000 1 2009 2009
dbSNP: rs706848
rs706848
2 233391273 intron variant G/A snv 0.63
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
0.700 1.000 1 2009 2009
dbSNP: rs706848
rs706848
2 233391273 intron variant G/A snv 0.63
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result
0.700 1.000 1 2009 2009
dbSNP: rs7566221
rs7566221
2 233370649 intron variant G/A;C snv
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result
0.700 1.000 1 2009 2009
dbSNP: rs7566221
rs7566221
2 233370649 intron variant G/A;C snv
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
0.700 1.000 1 2009 2009
dbSNP: rs7568534
rs7568534
2 233406433 intron variant G/C snv 0.30
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result
0.700 1.000 1 2009 2009
dbSNP: rs7568534
rs7568534
2 233406433 intron variant G/C snv 0.30
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
0.700 1.000 1 2009 2009
dbSNP: rs7573866
rs7573866
2 233367570 intron variant T/C snv 0.12
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result
0.700 1.000 1 2009 2009