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: 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: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
23 0.790 0.240 14 77027279 stop gained C/A;T snv 0.700 0
dbSNP: rs1554768245
rs1554768245
SYNE1
16 0.807 0.160 6 152472395 frameshift variant C/- delins 0.700 0
dbSNP: rs1555119899
rs1555119899
ATM ; C11orf65
7 0.925 0.240 11 108326149 missense variant G/C snv 0.700 0
dbSNP: rs1563390893
rs1563390893
CA8
5 0.851 0.200 8 60281047 splice donor variant C/T 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: rs201650281
rs201650281
KARS1
8 0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04 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: rs770499406
rs770499406
ERCC8
4 0.882 0.280 5 60898350 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs772410450
rs772410450
KARS1
5 0.882 0.200 16 75635688 missense variant A/C snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs774277300
rs774277300
MRE11
17 0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 0.700 0
dbSNP: rs886039904
rs886039904
GJC2
6 0.851 0.200 1 228157836 frameshift variant G/- del 0.700 0
dbSNP: rs104894699
rs104894699
KCNC3
4 0.925 0.120 19 50323694 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs121908212
rs121908212
CACNA1A
14 0.732 0.160 19 13303877 missense variant G/A snv 0.010 1.000 1 1999 1999
dbSNP: rs121908215
rs121908215
CACNA1A
3 0.882 0.160 19 13359707 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs121908220
rs121908220
CACNA1A
2 0.925 0.120 19 13235685 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs121908236
rs121908236
CACNA1A
2 0.925 0.160 19 13359724 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs387906881
rs387906881
GOSR2 ; LRRC37A2
3 0.925 0.120 17 46935122 missense variant G/T snv 6.0E-05 8.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs74315401
rs74315401
PRNP
32 0.683 0.320 20 4699525 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs74315402
rs74315402
PRNP
7 0.882 0.200 20 4699570 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs773819452
rs773819452
ECD
4 0.851 0.200 10 73160449 missense variant G/A snv 4.2E-06 0.010 1.000 1 2017 2017
dbSNP: rs797044872
rs797044872
KCNC3
3 0.882 0.200 19 50323685 missense variant C/T snv 0.010 1.000 1 2010 2010