Source: CLINVAR ×
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: rs121918173
rs121918173
GUSB
2 0.925 0.280 7 65974626 missense variant G/A snv 2.0E-05 1.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs121918185
rs121918185
GUSB
2 0.925 0.280 7 65974701 stop gained G/A snv 2.4E-05 2.1E-05 0.700 1.000 1 2015 2015
dbSNP: rs201118996
rs201118996
GALNT14
1 1.000 0.200 2 30924226 stop gained G/A snv 3.2E-05 6.3E-05 0.700 1.000 1 2015 2015
dbSNP: rs545520806
rs545520806
CHRNA1
1 1.000 0.200 2 174753594 synonymous variant G/A snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs751200138
rs751200138
MYOM1
1 1.000 0.200 18 3067333 missense variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs765004815
rs765004815
UBN1
1 1.000 0.200 16 4874766 missense variant T/A snv 2.8E-05 1.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs769345284
rs769345284
NEB
3 0.882 0.280 2 151537898 stop gained G/A snv 3.2E-05 0.700 1.000 1 2015 2015
dbSNP: rs786205667
rs786205667
PIGC ; C1orf105 ; LOC102724528
1 1.000 0.200 1 172441964 missense variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs786205669
rs786205669
THSD1
1 1.000 0.200 13 52397636 missense variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs786205670
rs786205670
CTSA ; NEURL2
1 1.000 0.200 20 45892874 frameshift variant C/- delins 0.700 1.000 1 2015 2015
dbSNP: rs786205671
rs786205671
GUSB
1 1.000 0.200 7 65979910 missense variant C/G snv 0.700 1.000 1 2015 2015
dbSNP: rs786205672
rs786205672
FZD6
1 1.000 0.200 8 103324975 missense variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs786205673
rs786205673
GUSB
1 1.000 0.200 7 65980313 missense variant G/A snv 1.6E-05 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs786205674
rs786205674
GUSB
1 1.000 0.200 7 65967798 missense variant T/C snv 0.700 1.000 1 2015 2015
dbSNP: rs9536062
rs9536062
THSD1
1 1.000 0.200 13 52397583 stop gained G/A;C snv 2.0E-05; 4.8E-02 0.700 1.000 1 2015 2015
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
9 0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 0.700 0
dbSNP: rs190521996
rs190521996
PMM2
12 0.790 0.320 16 8811660 missense variant T/C snv 2.9E-04 4.1E-04 0.700 0
dbSNP: rs587777589
rs587777589
AARS2
7 0.851 0.280 6 44311095 frameshift variant -/C delins 0.700 0
dbSNP: rs746607723
rs746607723
NEU1
2 0.925 0.320 6 31859797 stop gained G/A;C;T snv 4.5E-05 0.700 0
dbSNP: rs80338701
rs80338701
PMM2
13 0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 0.700 0
dbSNP: rs864309513
rs864309513
CYP21A2 ; NEU1
2 0.925 0.320 6 31861452 splice acceptor variant T/C;G snv 0.700 0