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: rs1057518821
rs1057518821
SLC2A1
5 1.000 1 42930671 frameshift variant -/C delins 0.700 0
dbSNP: rs1057518965
rs1057518965
ATM
5 0.882 0.320 11 108244812 frameshift variant A/- delins 0.700 0
dbSNP: rs1563945076
rs1563945076
APTX
4 0.925 0.160 9 32974556 frameshift variant A/- del 0.700 0
dbSNP: rs267606695
rs267606695
CA8
5 1.000 0.160 8 60266044 missense variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs587777004
rs587777004
HNRNPU ; COX20
3 1.000 0.080 1 244842055 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs63750231
rs63750231
PSEN1
23 0.689 0.160 14 73198100 missense variant A/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs1208917022
rs1208917022
ATN1
3 1.000 0.040 12 6936663 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs1424215334
rs1424215334
SLC3A1
3 1.000 0.120 2 44280805 missense variant A/G snv 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs143319805
rs143319805
OPA1
12 0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 0.010 1.000 1 2016 2016
dbSNP: rs148156462
rs148156462
COQ2
3 0.925 0.080 4 83264287 missense variant A/G snv 4.2E-03 1.6E-03 0.010 1.000 1 2015 2015
dbSNP: rs754081544
rs754081544
TWNK ; MRPL43
5 0.925 0.080 10 100988947 missense variant A/G snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs80358243
rs80358243
MLC1
4 0.925 0.200 22 50083183 intron variant A/G;T snv 8.0E-06 0.700 0
dbSNP: rs863224229
rs863224229
SURF1 ; SURF2
4 0.925 0.200 9 133356441 start lost ACCGCCGCCATCGCACCCGGCCCC/- delins 0.700 1.000 1 2016 2016
dbSNP: rs782316919
rs782316919
SURF1
9 0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 0.700 0
dbSNP: rs1057518796
rs1057518796
SYNGAP1
3 1.000 6 33443751 frameshift variant C/- delins 0.700 0
dbSNP: rs1554768245
rs1554768245
SYNE1
16 0.807 0.160 6 152472395 frameshift variant C/- delins 0.700 0
dbSNP: rs531630376
rs531630376
PCDH12
4 1.000 0.080 5 141955844 stop gained C/A snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs1555745467
rs1555745467
CACNA1A
23 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
dbSNP: rs80356713
rs80356713
ABCB7
3 0.925 0.120 X 75070499 missense variant C/A;G snv 0.010 1.000 1 2001 2001
dbSNP: rs1057519389
rs1057519389
EBF3
46 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs28933383
rs28933383
KCNA1
8 0.851 0.120 12 4912055 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1043679457
rs1043679457
ERCC8
33 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
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: rs1335702493
rs1335702493
APTX
4 0.925 0.200 9 32973507 stop gained C/A;T snv 0.010 1.000 1 2011 2011
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