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: rs1057518925
rs1057518925
COL6A2
4 1.000 0.120 21 46114006 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1057523354
rs1057523354
COL4A1
13 0.763 0.480 13 110179387 missense variant C/A snv 0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
47 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs1331463984
rs1331463984
TRAF7
33 0.701 0.240 16 2176350 missense variant G/A snv 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: rs1553315329
rs1553315329
SPAST
3 2 32116153 stop gained C/A;T snv 0.700 0
dbSNP: rs1553621496
rs1553621496
UNC80
53 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs1555366607
rs1555366607
SPTB
5 1.000 0.080 14 64767787 missense variant A/G snv 0.700 0
dbSNP: rs1555889984
rs1555889984
RUNX1
5 0.925 0.120 21 34834536 stop gained C/A snv 0.700 0
dbSNP: rs1559931177
rs1559931177
QRICH1
34 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
dbSNP: rs1560755661
rs1560755661
TBCK
44 0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 0.700 0
dbSNP: rs181109321
rs181109321
TTPA
17 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.700 0
dbSNP: rs551423795
rs551423795
MUSK
4 0.925 0.080 9 110687218 missense variant A/G snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs756877019
rs756877019
MUSK
3 1.000 9 110800760 missense variant G/C snv 4.0E-06 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: rs864321670
rs864321670
ALDH18A1
24 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
dbSNP: rs869312697
rs869312697
ARID1B
8 0.882 0.400 6 157207241 stop gained C/T snv 0.700 0
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2008 2019
dbSNP: rs199682734
rs199682734
OPRM1
1 6 154118718 synonymous variant C/T snv 8.1E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs267606640
rs267606640
AGL
5 0.882 0.120 1 99913557 stop gained G/A snv 5.6E-05 5.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs36010656
rs36010656
SLCO1C1
4 0.925 0.080 12 20711408 missense variant C/A;T snv 3.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs6277
rs6277
DRD2
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.010 1.000 1 2008 2008
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.020 1.000 2 2009 2012
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2009 2009