SERPINC1, serpin family C member 1, 462

N. diseases: 184; N. variants: 46
Disease: Deep Vein Thrombosis ×
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: rs121909567
rs121909567 		0.925 0.120 1 173914570 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1487411568
rs1487411568 		0.925 0.120 1 173903969 missense variant G/A;T snv 7.0E-06
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2227589
rs2227589 		0.925 0.120 1 173917078 intron variant C/T snv 9.6E-02
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs3138521
rs3138521 		1.000 0.040 1 173917605 upstream gene variant CTAACCAAGGAAACAAACTTGGTTCATACCCA/TACCTGACTGAGGAGAAACTTGTCTGCAGGATTTTTTGTTTCTCGTTAACTAAATCAGAAGATAGAAATAGTTAATGTCCAAAAACTTCTAGCCCTCTACCTGTAATT delins
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		Cardiovascular Diseases 0.010 1.000 1 2017 2017