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: rs141387770
rs141387770
SMPD1
1 1.000 0.160 11 6391754 missense variant G/A snv 2.0E-04 6.9E-04 0.800 1.000 2 2008 2009
dbSNP: rs182812968
rs182812968
SMPD1
3 0.925 0.160 11 6393981 missense variant C/T snv 1.6E-05 4.2E-05 0.700 1.000 6 2002 2013
dbSNP: rs727504166
rs727504166
SMPD1
2 0.925 0.160 11 6391540 missense variant T/C snv 1.2E-05 4.2E-05 0.700 1.000 4 1993 2016
dbSNP: rs1057517195
rs1057517195
SMPD1
2 0.925 0.160 11 6391622 missense variant C/T snv 2.4E-05 3.5E-05 0.800 0
dbSNP: rs120074124
rs120074124
SMPD1
4 0.882 0.160 11 6391976 missense variant T/C snv 1.6E-05 3.5E-05 0.820 1.000 25 1991 2019
dbSNP: rs587779408
rs587779408
SMPD1
3 0.882 0.160 11 6391804 missense variant G/A snv 2.4E-05 2.8E-05 0.800 1.000 22 1991 2016
dbSNP: rs372287825
rs372287825
SMPD1
1 1.000 0.160 11 6393230 missense variant A/G snv 2.1E-05 0.700 1.000 18 1991 2016
dbSNP: rs769904764
rs769904764
SMPD1
2 0.925 0.160 11 6394203 missense variant C/T snv 1.2E-05 2.1E-05 0.700 1.000 8 1991 2016
dbSNP: rs794727252
rs794727252
SMPD1
2 0.925 0.160 11 6391846 frameshift variant TGTTGAGTGGGCTGGGCCCAGCC/- delins 2.1E-05 0.700 0
dbSNP: rs750157176
rs750157176
SMPD1
1 1.000 0.160 11 6390678 frameshift variant C/-;CC delins 2.0E-05 1.4E-05 0.700 1.000 5 1994 2013
dbSNP: rs868423827
rs868423827
SMPD1
2 0.925 0.160 11 6390839 stop gained C/T snv 1.4E-05 0.700 0
dbSNP: rs727504167
rs727504167
SMPD1
2 0.925 0.160 11 6391638 frameshift variant T/- del 7.1E-06 0.700 1.000 6 1998 2016
dbSNP: rs1057516949
rs1057516949
SMPD1
1 1.000 0.160 11 6390747 frameshift variant GACT/- delins 7.1E-06 0.700 1.000 1 2015 2015
dbSNP: rs767492080
rs767492080
SMPD1
1 1.000 0.160 11 6393621 missense variant A/G snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs120074126
rs120074126
SMPD1
3 0.925 0.160 11 6393620 missense variant C/T snv 7.0E-06 0.700 1.000 4 2002 2017
dbSNP: rs747143343
rs747143343
SMPD1
1 1.000 0.160 11 6393898 missense variant A/G snv 2.0E-05 7.0E-06 0.710 1.000 1 1995 1995
dbSNP: rs761308217
rs761308217
SMPD1
2 0.925 0.160 11 6392038 missense variant C/G snv 7.0E-06 0.700 1.000 3 2004 2015
dbSNP: rs120074128
rs120074128
SMPD1
3 0.882 0.160 11 6391945 missense variant C/A snv 8.0E-06 7.0E-06 0.800 1.000 25 1991 2016
dbSNP: rs398123478
rs398123478
SMPD1
3 0.925 0.160 11 6394335 stop gained C/T snv 6.4E-05 7.0E-06 0.700 1.000 3 2012 2016
dbSNP: rs370129081
rs370129081
SMPD1
3 0.925 0.160 11 6394516 missense variant G/A snv 1.6E-05 7.0E-06 0.800 1.000 27 1991 2016
dbSNP: rs1057516403
rs1057516403
SMPD1
1 1.000 0.160 11 6394495 frameshift variant TT/- delins 7.0E-06 0.700 1.000 4 2003 2016
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