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: rs1057518988
rs1057518988
GRIN2B
3 0.925 0.040 12 13571859 missense variant T/C snv 0.700 0
dbSNP: rs138249161
rs138249161
POLR3B
8 0.827 0.240 12 106432421 missense variant T/A snv 2.7E-04 3.0E-04 0.700 0
dbSNP: rs1553281318
rs1553281318
COQ8A
7 0.882 0.120 1 226986536 frameshift variant -/A delins 0.700 0
dbSNP: rs1553878395
rs1553878395
SEPSECS
5 0.925 0.080 4 25127263 splice acceptor variant AAAGATATGGGATTGTGAGGTGTATGCAACAGTCTTTCATTGTAGGCTTCTGACAACTTCTTTATTTGGTTGGACAAATATGAAAACATTTCCT/- delins 0.700 0
dbSNP: rs672601362
rs672601362
KIF1A
7 0.851 0.080 2 240789246 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: rs730882198
rs730882198
SPART
6 0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05 0.700 0
dbSNP: rs730882209
rs730882209
SETX
6 0.925 0.080 9 132326375 frameshift variant -/C delins 0.700 0
dbSNP: rs730882234
rs730882234
PTRH2
4 0.925 17 59697725 missense variant T/G snv 0.700 0
dbSNP: rs797046006
rs797046006
SPTBN2
1 11 66715958 missense variant T/C snv 0.700 0
dbSNP: rs876661219
rs876661219
GRIN2B
2 1.000 12 13571891 missense variant A/C;G snv 0.700 0
dbSNP: rs181109321
rs181109321
TTPA
17 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.010 1.000 1 1999 1999
dbSNP: rs121918514
rs121918514
PRKCG
4 0.925 0.080 19 53889705 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs121918518
rs121918518
PRKCG
3 1.000 0.080 19 53889655 missense variant C/G snv 0.010 1.000 1 2005 2005
dbSNP: rs267607044
rs267607044
SETX
3 1.000 0.080 9 132327718 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2006 2006
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
31 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.010 1.000 1 2007 2007
dbSNP: rs120074125
rs120074125
SMPD1
7 0.882 0.160 11 6393301 missense variant T/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1208917022
rs1208917022
ATN1
3 1.000 0.040 12 6936663 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs1057520918
rs1057520918
CACNA1A
11 0.790 0.160 19 13262780 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs121908230
rs121908230
CACNA1A
5 0.882 0.080 19 13262789 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs121918544
rs121918544
TINF2
7 0.827 0.200 14 24240635 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs74315401
rs74315401
PRNP
32 0.683 0.320 20 4699525 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs11538758
rs11538758
PRNP
8 0.882 0.160 20 4699534 missense variant C/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs121908225
rs121908225
CACNA1A
12 0.790 0.120 19 13365448 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs1269252748
rs1269252748
VLDLR ; VLDLR-AS1
4 9 2641436 missense variant C/T snv 0.010 1.000 1 2009 2009