Source: CURATED ×
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: rs730882247
rs730882247
TMEM92
3 0.882 0.040 17 50277743 splice region variant A/G snv 0.700 0
dbSNP: rs750331613
rs750331613
GRID2
5 0.882 0.040 4 93515346 missense variant C/T snv 4.8E-05 2.1E-05 0.700 0
dbSNP: rs672601362
rs672601362
KIF1A
7 0.851 0.080 2 240789246 missense variant G/A snv 0.700 0
dbSNP: rs672601363
rs672601363
KIF1A
6 0.851 0.080 2 240788109 missense variant C/T snv 0.700 0
dbSNP: rs672601367
rs672601367
KIF1A
7 0.851 0.080 2 240785066 missense variant T/G snv 0.700 0
dbSNP: rs730882209
rs730882209
SETX
6 0.925 0.080 9 132326375 frameshift variant -/C delins 0.700 0
dbSNP: rs1555789140
rs1555789140
SNX5 ; OVOL2 ; MGME1
4 0.882 0.120 20 17970217 frameshift variant C/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1208636573
rs1208636573
MSTO1 ; LOC105371452
15 0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs1553281318
rs1553281318
COQ8A
7 0.882 0.120 1 226986536 frameshift variant -/A delins 0.700 0
dbSNP: rs1554107200
rs1554107200
HARS1
4 0.851 0.120 5 140679127 missense variant C/A snv 0.700 0
dbSNP: rs201128942
rs201128942
SNX14
5 0.851 0.120 6 85547112 stop gained C/A;T snv 2.4E-05 4.2E-05 0.700 0
dbSNP: rs622288
rs622288
MSTO1 ; LOC105371452
15 0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 0.700 0
dbSNP: rs672601369
rs672601369
KIF1A
10 0.790 0.120 2 240783780 missense variant C/T snv 0.700 0
dbSNP: rs730882224
rs730882224
PNKP
3 0.882 0.120 19 49861818 frameshift variant -/GTCGATGGCGACCCGTT delins 0.700 0
dbSNP: rs672601368
rs672601368
KIF1A
10 0.827 0.160 2 240785062 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1114167295
rs1114167295
MAGED2
6 0.827 0.160 X 54812169 frameshift variant C/- del 0.700 0
dbSNP: rs1114167296
rs1114167296
TMEM47
6 0.827 0.160 X 34656995 missense variant C/G snv 0.700 0
dbSNP: rs139632595
rs139632595
EXOSC9
19 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 0.700 0
dbSNP: rs1554768245
rs1554768245
SYNE1
16 0.807 0.160 6 152472395 frameshift variant C/- delins 0.700 0
dbSNP: rs1554902217
rs1554902217
TPP1
7 0.851 0.160 11 6618821 frameshift variant A/- del 0.700 0
dbSNP: rs1555642784
rs1555642784
CNTNAP1
5 0.851 0.160 17 42688979 frameshift variant -/C delins 0.700 0
dbSNP: rs587777721
rs587777721
SCN8A
4 0.925 0.160 12 51806336 missense variant G/A snv 0.700 0
dbSNP: rs672601370
rs672601370
KIF1A
13 0.790 0.160 2 240775863 missense variant G/A snv 0.700 0
dbSNP: rs897535441
rs897535441
ERCC8
5 0.925 0.160 5 60887521 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs913477149
rs913477149
RFT1
13 0.851 0.160 3 53105728 missense variant T/A;C snv 0.700 0