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: rs1194865614
rs1194865614
SERPINE1
1 1.000 0.040 7 101132065 splice donor variant -/TA delins 4.0E-06 0.700 1.000 1 1992 1992
dbSNP: rs1554362148
rs1554362148
SERPINE1
1 1.000 0.040 7 101130504 frameshift variant -/C delins 0.700 1.000 1 2011 2011