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: rs1550532
rs1550532 		2 233356202 intron variant C/G snv 0.75
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.800 1.000 3 2009 2010
dbSNP: rs1550532
rs1550532 		2 233356202 intron variant C/G snv 0.75
CUI: C0201925
Disease: Calcium measurement
Calcium measurement 		0.800 1.000 1 2013 2013
dbSNP: rs1550532
rs1550532 		2 233356202 intron variant C/G snv 0.75
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 2 2009 2009
dbSNP: rs838708
rs838708 		2 233375753 intron variant G/A snv 0.74
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 2 2009 2009
dbSNP: rs838708
rs838708 		2 233375753 intron variant G/A snv 0.74
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 2 2009 2009
dbSNP: rs1053895
rs1053895 		2 233470256 3 prime UTR variant T/C snv 0.69
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 1 2009 2009
dbSNP: rs1053895
rs1053895 		2 233470256 3 prime UTR variant T/C snv 0.69
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs11675254
rs11675254 		2 233455401 intron variant G/A snv 0.12
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs11675254
rs11675254 		2 233455401 intron variant G/A snv 0.12
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 1 2009 2009
dbSNP: rs11681604
rs11681604 		2 233429581 intron variant G/A snv 0.31
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs11681604
rs11681604 		2 233429581 intron variant G/A snv 0.31
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 1 2009 2009
dbSNP: rs11689634
rs11689634 		2 233429533 intron variant T/C snv 2.5E-02
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs11689634
rs11689634 		2 233429533 intron variant T/C snv 2.5E-02
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 1 2009 2009
dbSNP: rs11694406
rs11694406 		2 233423164 intron variant G/A snv 0.12
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs11694406
rs11694406 		2 233423164 intron variant G/A snv 0.12
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs11694406
rs11694406 		2 233423164 intron variant G/A snv 0.12
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 1 2009 2009
dbSNP: rs1441093
rs1441093 		2 233363838 intron variant A/G snv 0.82
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs1441093
rs1441093 		2 233363838 intron variant A/G snv 0.82
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 1 2009 2009
dbSNP: rs1550532
rs1550532 		2 233356202 intron variant C/G snv 0.75
CUI: C0428302
Disease: Calcium level result
Calcium level result 		0.700 1.000 1 2013 2013
dbSNP: rs2034762
rs2034762 		2 233455591 intron variant T/A snv 0.28
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs2034762
rs2034762 		2 233455591 intron variant T/A snv 0.28
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 1 2009 2009
dbSNP: rs2242100
rs2242100 		2 233449640 intron variant C/T snv 0.72
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 1 2009 2009
dbSNP: rs2242100
rs2242100 		2 233449640 intron variant C/T snv 0.72
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs2290464
rs2290464 		2 233460175 intron variant T/C;G snv 0.22; 4.0E-06
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 1 2009 2009
dbSNP: rs2290464
rs2290464 		2 233460175 intron variant T/C;G snv 0.22; 4.0E-06
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009