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: rs120074117
rs120074117
SMPD1
5 0.882 0.160 11 6394204 missense variant G/A;C;T snv 1.2E-05; 4.0E-06; 1.4E-04 0.810 1.000 22 1991 2016
dbSNP: rs1554935555
rs1554935555
SMPD1
2 0.925 0.160 11 6394314 missense variant T/C snv 0.800 1.000 22 1991 2016
dbSNP: rs120074119
rs120074119
SMPD1
1 1.000 0.160 11 6394446 missense variant G/A snv 8.0E-06 0.800 1.000 20 1991 2016
dbSNP: rs120074121
rs120074121
SMPD1
3 0.925 0.160 11 6393276 missense variant G/A snv 0.800 1.000 20 1991 2016
dbSNP: rs1554935136
rs1554935136
SMPD1
1 1.000 0.160 11 6393629 missense variant G/A snv 0.800 1.000 20 1991 2016
dbSNP: rs267607074
rs267607074
SMPD1
1 1.000 0.160 11 6393961 missense variant A/C snv 0.800 1.000 20 1991 2016
dbSNP: rs267607075
rs267607075
SMPD1
1 1.000 0.160 11 6394006 missense variant C/A;T snv 4.0E-06 0.800 1.000 20 1991 2016
dbSNP: rs1291958011
rs1291958011
SMPD1
1 1.000 0.160 11 6391793 missense variant C/T snv 0.700 1.000 18 1991 2016
dbSNP: rs1319643225
rs1319643225
SMPD1
2 1.000 0.160 11 6393949 missense variant T/C snv 4.0E-06 0.700 1.000 18 1991 2016
dbSNP: rs200763423
rs200763423
SMPD1
2 0.925 0.160 11 6391807 stop gained G/A;C;T snv 4.0E-06 0.800 1.000 18 1991 2016
dbSNP: rs750779804
rs750779804
SMPD1
3 0.925 0.160 11 6391813 missense variant A/C snv 8.0E-06 0.800 1.000 8 2003 2013
dbSNP: rs751269562
rs751269562
SMPD1
2 0.925 0.160 11 6390912 missense variant T/C snv 4.0E-06 0.800 1.000 8 2004 2016
dbSNP: rs753508874
rs753508874
SMPD1
3 0.925 0.160 11 6393985 missense variant C/A;T snv 2.0E-05 0.800 1.000 8 2002 2012
dbSNP: rs786204506
rs786204506
SMPD1
2 1.000 0.160 11 6390694 stop gained G/A snv 0.700 1.000 7 1994 2013
dbSNP: rs989639224
rs989639224
SMPD1
3 0.882 0.160 11 6391753 missense variant C/A;T snv 4.1E-06; 4.1E-06 0.800 1.000 7 2006 2013
dbSNP: rs120074118
rs120074118
SMPD1
3 0.925 0.160 11 6394537 inframe deletion GCC/- delins 0.700 1.000 5 1991 2009
dbSNP: rs120074127
rs120074127
SMPD1
2 0.925 0.160 11 6393680 stop gained C/G;T snv 5.6E-05; 1.6E-05 0.700 1.000 4 1995 2012
dbSNP: rs786204694
rs786204694
SMPD1
1 1.000 0.160 11 6391602 frameshift variant TT/- delins 0.700 1.000 4 1992 2016
dbSNP: rs1554933780
rs1554933780
SMPD1
1 1.000 0.160 11 6390693 stop gained G/A snv 0.700 1.000 3 2005 2008
dbSNP: rs387906289
rs387906289
SMPD1
3 0.925 0.160 11 6392056 frameshift variant C/- delins 0.700 1.000 3 1993 2015
dbSNP: rs398123474
rs398123474
SMPD1
1 1.000 0.160 11 6393215 splice acceptor variant G/C snv 0.700 1.000 3 1991 2006
dbSNP: rs398123479
rs398123479
SMPD1
2 0.925 0.160 11 6391822 missense variant G/C snv 1.6E-05 0.800 1.000 3 2010 2016
dbSNP: rs748165078
rs748165078
SMPD1
1 1.000 0.160 11 6391641 frameshift variant C/-;CC delins 0.700 1.000 3 2004 2005
dbSNP: rs120074125
rs120074125
SMPD1
7 0.882 0.160 11 6393301 missense variant T/G snv 4.0E-06 0.700 1.000 2 1995 2007
dbSNP: rs1422720020
rs1422720020
SMPD1
1 1.000 0.160 11 6393219 frameshift variant -/G delins 0.700 1.000 2 2013 2016