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: rs137852972
rs137852972
BSCL2 ; HNRNPUL2-BSCL2
10 0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05 0.840 1.000 5 2004 2011
dbSNP: rs137852973
rs137852973
BSCL2 ; HNRNPUL2-BSCL2
13 0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 0.820 1.000 3 2004 2009
dbSNP: rs137852646
rs137852646
GARS1
2 0.925 0.080 7 30628598 missense variant G/A;C snv 0.810 1.000 6 2003 2015
dbSNP: rs137852644
rs137852644
GARS1
1 1.000 0.040 7 30601179 missense variant T/C snv 0.800 1.000 5 2003 2015
dbSNP: rs1060502838
rs1060502838
GARS1
2 0.925 0.080 7 30621448 missense variant A/G snv 0.800 0
dbSNP: rs1554337974
rs1554337974
GARS1
3 0.882 0.080 7 30609643 missense variant C/T snv 0.700 1.000 5 2003 2015
dbSNP: rs137852645
rs137852645
GARS1
2 0.925 0.080 7 30599996 missense variant A/G snv 0.700 0
dbSNP: rs137852647
rs137852647
GARS1
2 0.925 0.080 7 30626280 missense variant G/A snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs550423482
rs550423482
PNPO
6 0.882 0.160 17 47946670 missense variant G/A;T snv 4.0E-05 0.700 0
dbSNP: rs766280100
rs766280100
GARS1
1 1.000 0.040 7 30628653 missense variant G/C snv 0.700 0
dbSNP: rs863224873
rs863224873
GARS1
2 0.925 0.080 7 30612212 missense variant A/C;G;T snv 0.700 0
dbSNP: rs1169067903
rs1169067903
NUP214
2 0.925 0.040 9 131197276 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs370531212
rs370531212
GARS1
2 0.925 0.080 7 30599954 missense variant C/T snv 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs574548474
rs574548474
NUP214
2 0.925 0.040 9 131128389 missense variant T/C snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs749865861
rs749865861
GNG3 ; BSCL2 ; HNRNPUL2-BSCL2
1 1.000 0.040 11 62705535 missense variant G/A snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs879253928
rs879253928
GNG3 ; BSCL2 ; HNRNPUL2-BSCL2
3 0.882 0.080 11 62705433 missense variant A/G snv 0.010 1.000 1 2011 2011