Gene: SERPINC1 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909567
rs121909567
SERPINC1
2 0.925 0.120 1 173914570 missense variant G/A snv 1.6E-05 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs1487411568
rs1487411568
SERPINC1 ; ZBTB37
2 0.925 0.120 1 173903969 missense variant G/A;T snv 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs2227589
rs2227589
SERPINC1
3 0.925 0.120 1 173917078 intron variant C/T snv 9.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs3138521
rs3138521
SERPINC1
1 1.000 0.040 1 173917605 upstream gene variant CTAACCAAGGAAACAAACTTGGTTCATACCCA/TACCTGACTGAGGAGAAACTTGTCTGCAGGATTTTTTGTTTCTCGTTAACTAAATCAGAAGATAGAAATAGTTAATGTCCAAAAACTTCTAGCCCTCTACCTGTAATT delins 0.010 1.000 1 2017 2017