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 0.720 1.000 2 1992 2008
dbSNP: rs120074124
rs120074124
SMPD1
4 0.882 0.160 11 6391976 missense variant T/C snv 1.6E-05 3.5E-05 0.720 1.000 2 1992 2017
dbSNP: rs797044800
rs797044800
SMPD1
3 0.925 0.160 11 6392141 missense variant C/A snv 0.710 1.000 2 2016 2016
dbSNP: rs797044799
rs797044799
SMPD1
1 11 6391939 missense variant C/A;G snv 0.700 1.000 3 2003 2006
dbSNP: rs120074118
rs120074118
SMPD1
3 0.925 0.160 11 6394537 inframe deletion GCC/- delins 0.700 1.000 2 2003 2004
dbSNP: rs120074126
rs120074126
SMPD1
3 0.925 0.160 11 6393620 missense variant C/T snv 7.0E-06 0.700 1.000 1 2002 2002
dbSNP: rs747342458
rs747342458
SMPD1
2 1.000 0.160 11 6394445 missense variant G/A;C snv 0.700 1.000 1 2002 2002
dbSNP: rs182812968
rs182812968
SMPD1
3 0.925 0.160 11 6393981 missense variant C/T snv 1.6E-05 4.2E-05 0.700 0
dbSNP: rs387906289
rs387906289
SMPD1
3 0.925 0.160 11 6392056 frameshift variant C/- delins 0.700 0
dbSNP: rs797044797
rs797044797
SMPD1
2 1.000 0.160 11 6391481 missense variant T/C snv 0.700 0
dbSNP: rs797044798
rs797044798
SMPD1
3 0.925 0.160 11 6391657 missense variant G/C snv 4.9E-06 0.700 0
dbSNP: rs1050228
rs1050228
SMPD1
1 11 6390705 missense variant T/C snv 5.9E-03; 0.55; 7.2E-03; 1.1E-02; 0.26 0.45 0.010 1.000 1 2015 2015
dbSNP: rs120074120
rs120074120
SMPD1
2 1.000 0.160 11 6391853 stop gained T/A snv 4.0E-06 0.010 1.000 1 1992 1992
dbSNP: rs120074121
rs120074121
SMPD1
3 0.925 0.160 11 6393276 missense variant G/A snv 0.010 1.000 1 1992 1992
dbSNP: rs1319643225
rs1319643225
SMPD1
2 1.000 0.160 11 6393949 missense variant T/C snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs267607073
rs267607073
SMPD1
2 1.000 0.160 11 6393667 missense variant C/A snv 0.010 1.000 1 2002 2002
dbSNP: rs370129081
rs370129081
SMPD1
3 0.925 0.160 11 6394516 missense variant G/A snv 1.6E-05 7.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs398123478
rs398123478
SMPD1
3 0.925 0.160 11 6394335 stop gained C/T snv 6.4E-05 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs749780080
rs749780080
SMPD1
1 11 6393332 missense variant G/C snv 0.010 < 0.001 1 2004 2004
dbSNP: rs750779804
rs750779804
SMPD1
3 0.925 0.160 11 6391813 missense variant A/C snv 8.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs752796202
rs752796202
KIDINS220
1 2 8802930 missense variant C/G snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs753508874
rs753508874
SMPD1
3 0.925 0.160 11 6393985 missense variant C/A;T snv 2.0E-05 0.010 1.000 1 2003 2003
dbSNP: rs786204506
rs786204506
SMPD1
2 1.000 0.160 11 6390694 stop gained G/A snv 0.010 < 0.001 1 2004 2004