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: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 1.000 1 2018 2018
dbSNP: rs1554699491
rs1554699491
AGTPBP1
0.763 0.280 9 85596450 splice acceptor variant C/A snv
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs780631499
rs780631499
AGTPBP1
0.763 0.280 9 85588465 frameshift variant G/- del 4.0E-06 7.0E-06
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs1563390893
rs1563390893
CA8
0.851 0.200 8 60281047 splice donor variant C/T snv
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs1057519429
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs1555745467
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs779027563
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 1.000 1 2017 2017
dbSNP: rs1555642784
rs1555642784
CNTNAP1
0.851 0.160 17 42688979 frameshift variant -/C delins
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs1553281318
rs1553281318
COQ8A
0.882 0.120 1 226986536 frameshift variant -/A delins
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs863223953
rs863223953
DNM1L ; YARS2
0.776 0.240 12 32731362 missense variant C/T snv
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 1.000 2 2016 2016
dbSNP: rs869320624
rs869320624
EMC1 ; EMC1-AS1
0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 1.000 2 2016 2017
dbSNP: rs1057518813
rs1057518813
ERCC5 ; BIVM-ERCC5
0.790 0.240 13 102873305 frameshift variant CT/- delins
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs748379243
rs748379243
ERCC8
0.882 0.200 5 60928961 splice acceptor variant T/A;C snv 4.0E-06 7.0E-06
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs897535441
rs897535441
ERCC8
0.925 0.160 5 60887521 splice acceptor variant C/G;T snv
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs139632595
rs139632595
EXOSC9
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs750331613
rs750331613
GRID2
0.882 0.040 4 93515346 missense variant C/T snv 4.8E-05 2.1E-05
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs1554107200
rs1554107200
HARS1
0.851 0.120 5 140679127 missense variant C/A snv
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs672601368
rs672601368
KIF1A
0.827 0.160 2 240785062 missense variant C/G;T snv
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 1.000 1 2016 2016
dbSNP: rs387906799
rs387906799
KIF1A
0.742 0.200 2 240788118 missense variant G/A snv
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs672601362
rs672601362
KIF1A
0.851 0.080 2 240789246 missense variant G/A snv
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs672601363
rs672601363
KIF1A
0.851 0.080 2 240788109 missense variant C/T snv
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs672601367
rs672601367
KIF1A
0.851 0.080 2 240785066 missense variant T/G snv
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs672601369
rs672601369
KIF1A
0.790 0.120 2 240783780 missense variant C/T snv
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs672601370
rs672601370
KIF1A
0.790 0.160 2 240775863 missense variant G/A snv
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs1114167295
rs1114167295
MAGED2
0.827 0.160 X 54812169 frameshift variant C/- del
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0