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: rs1057518839
rs1057518839
MPZ
4 1.000 1 161305924 missense variant A/C snv 0.700 0
dbSNP: rs138008832
rs138008832
PDGFRB
8 1.000 5 150123142 missense variant G/A;T snv 1.1E-04; 1.6E-05 0.700 0
dbSNP: rs139194636
rs139194636
WARS2
6 0.882 0.240 1 119033203 missense variant T/C snv 6.4E-05 2.3E-04 0.700 0
dbSNP: rs1421405659
rs1421405659
MYBPC1
13 0.851 0.360 12 101642529 missense variant T/C;G snv 0.700 0
dbSNP: rs146170087
rs146170087
C19orf12
7 0.925 0.040 19 29702747 missense variant T/C snv 2.3E-03 1.1E-03 0.700 0
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs1569548274
rs1569548274
MECP2
43 0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 0.700 0
dbSNP: rs200455852
rs200455852
ASAH1
6 0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05 0.700 0
dbSNP: rs201893408
rs201893408
TMEM67
28 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 0
dbSNP: rs2230288
rs2230288
GBA
18 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
52 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
dbSNP: rs515726205
rs515726205
C19orf12
7 0.882 0.040 19 29702966 missense variant C/T snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs564856283
rs564856283
MYBPC1
3 12 101642495 missense variant G/A;C snv 3.2E-05 0.700 0
dbSNP: rs587777721
rs587777721
SCN8A
4 0.925 0.160 12 51806336 missense variant G/A snv 0.700 0
dbSNP: rs606231435
rs606231435
ATP1A3
18 0.827 0.240 19 41970539 missense variant C/T snv 0.700 0
dbSNP: rs752362727
rs752362727
TMEM67
22 0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 0.700 0
dbSNP: rs757600616
rs757600616
WARS2
6 0.882 0.240 1 119033279 stop gained G/A snv 1.2E-05 0.700 0
dbSNP: rs781939614
rs781939614
PEX11B
11 0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs781984979
rs781984979
PEX11B
11 0.851 0.240 1 145912346 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs869312713
rs869312713
ANKRD11
6 0.882 0.320 16 89280070 stop gained C/A snv 0.700 0
dbSNP: rs80338777
rs80338777
CACNA1S
10 0.827 0.200 1 201077915 missense variant C/A;T snv 1.2E-05 0.010 1.000 1 2000 2000
dbSNP: rs104893878
rs104893878
SNCA ; SNCA-AS1
21 0.732 0.160 4 89835580 missense variant C/G snv 0.020 1.000 2 2003 2004
dbSNP: rs63750756
rs63750756
MAPT
23 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.010 1.000 1 2003 2003
dbSNP: rs35986369
rs35986369
RAB5A
2 1.000 0.040 3 19950975 frameshift variant -/GG delins 0.010 1.000 1 2004 2004
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2006 2006