Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057516033
rs1057516033
KAT6B
0.807 0.400 10 75025250 splice donor variant G/A snv
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.700 1.000 1 2016 2016
dbSNP: rs121918358
rs121918358
SPG7
0.882 0.160 16 89510539 stop gained T/A snv 4.2E-04 1.8E-04
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.700 1.000 1 2016 2016
dbSNP: rs141659620
rs141659620
SPG7
0.882 0.160 16 89531961 missense variant G/A;C snv 8.3E-04; 8.0E-06
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.700 1.000 1 2016 2016
dbSNP: rs312262717
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.700 1.000 1 2009 2009
dbSNP: rs61755320
rs61755320
SPG7
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.700 1.000 1 2016 2016
dbSNP: rs72547551
rs72547551
SPG7
0.882 0.160 16 89550545 missense variant C/T snv 3.6E-05 1.5E-04
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.700 1.000 1 2016 2016
dbSNP: rs748309520
rs748309520
SPG7
0.882 0.160 16 89531903 splice acceptor variant G/A snv 1.6E-05 7.0E-06
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.700 1.000 1 2016 2016
dbSNP: rs752989523
rs752989523
SPG7
0.882 0.160 16 89553853 stop gained G/A;C snv 8.0E-06
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.700 1.000 1 2016 2016
dbSNP: rs776679653
rs776679653
ISCA1
0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.700 1.000 1 2017 2017
dbSNP: rs879253797
rs879253797
SPG7
0.882 0.160 16 89556954 missense variant C/T snv 1.4E-05
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.700 1.000 1 2016 2016
dbSNP: rs879253798
rs879253798
SPG7
1.000 0.080 16 89524099 frameshift variant TC/- delins
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.700 1.000 1 2016 2016
dbSNP: rs1057516049
rs1057516049
KAT6A
0.851 0.040 8 41933963 frameshift variant CACT/- delins
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.700 0
dbSNP: rs1060502227
rs1060502227
SPAST
0.851 0.120 2 32136593 missense variant C/G;T snv
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.700 0
dbSNP: rs1085307993
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.700 0
dbSNP: rs1217391623
rs1217391623
SPG7
0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.700 0
dbSNP: rs1247665387
rs1247665387
FA2H
0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.700 0
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.700 0
dbSNP: rs137852981
rs137852981
ZEB2
0.752 0.480 2 144399104 stop gained G/A snv
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.700 0
dbSNP: rs1553546045
rs1553546045
PTH2R
0.925 0.200 2 208442425 missense variant C/T snv
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.700 0
dbSNP: rs1555119899
rs1555119899
ATM ; C11orf65
0.925 0.240 11 108326149 missense variant G/C snv
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.700 0
dbSNP: rs1555454508
rs1555454508
SPG11
0.790 0.240 15 44615487 stop gained GTA/ATC mnv
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.700 0
dbSNP: rs1555471098
rs1555471098
CREBBP
0.925 0.120 16 3728852 frameshift variant GCTGGGTGAGA/- del
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.700 0
dbSNP: rs1555731819
rs1555731819
KMT2B
0.807 0.200 19 35729980 missense variant G/T snv
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.700 0
dbSNP: rs1555954284
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.700 0