ERGIC3, ERGIC and golgi 3, 51614

N. diseases: 16; N. variants: 6
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: rs12481365
rs12481365 		20 35543647 non coding transcript exon variant C/T snv 0.18 0.16
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3790136
rs3790136 		20 35555507 intron variant A/T snv 0.21
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3790136
rs3790136 		20 35555507 intron variant A/T snv 0.21
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs6060456
rs6060456 		20 35544459 non coding transcript exon variant T/C snv 0.12
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs6060456
rs6060456 		20 35544459 non coding transcript exon variant T/C snv 0.12
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs6060462
rs6060462 		20 35554741 intron variant G/A snv 0.11
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs6060462
rs6060462 		20 35554741 intron variant G/A snv 0.11
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs71909504
rs71909504 		20 35557937 downstream gene variant -/AAATAAT;AAT;AATTAAT delins 0.13
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs8825
rs8825 		20 35556975 splice region variant A/G snv 0.12 0.15
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs8825
rs8825 		20 35556975 splice region variant A/G snv 0.12 0.15
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010