C2, complement C2, 717

N. diseases: 71; N. variants: 39
Disease: Blood Protein Measurement ×
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: rs1042663
rs1042663 		0.925 0.160 6 31937353 synonymous variant G/A snv 9.7E-02 0.12
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs114508013
rs114508013 		6 31900988 synonymous variant G/A snv 1.8E-02 1.8E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs561312719
rs561312719 		6 31913031 intron variant AAAAAAA/-;AAAAA;AAAAAA;AAAAAAAA;AAAAAAAAA;AAAAAAAAAA;AAAAAAAAAAA delins 0.12
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs572361305
rs572361305 		6 31934289 splice donor variant GTGGACAGGGTCAGGAATCAGGAGTCTG/- delins
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018