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: rs750959420
rs750959420
SETX
2 1.000 0.080 9 132311820 frameshift variant CTCT/-;CT delins 4.0E-06; 2.4E-05 3.5E-05 0.700 0
dbSNP: rs753635972
rs753635972
MTHFS ; ST20-MTHFS
15 0.790 0.120 15 79845388 missense variant C/T snv 3.2E-05 2.1E-05 0.700 0
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: rs758361736
rs758361736
KIF7
16 0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05 0.700 0
dbSNP: rs771379232
rs771379232
MTHFS ; ST20-MTHFS
15 0.790 0.120 15 79845338 stop gained G/A snv 2.0E-05 3.5E-05 0.700 0
dbSNP: rs773372123
rs773372123
IFT140 ; LOC105371046
5 0.851 0.160 16 1587209 missense variant C/T snv 2.0E-05 0.700 0
dbSNP: rs774214806
rs774214806
GRM1
2 1.000 6 146159536 stop gained C/A;T snv 1.6E-05 0.700 0
dbSNP: rs775141057
rs775141057
POLR3B ; LOC100287944
6 0.882 0.120 12 106496115 missense variant C/A;T snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs781934508
rs781934508
SURF1
4 1.000 0.080 9 133352441 splice region variant C/A;T snv 2.4E-05 0.700 0
dbSNP: rs782316919
rs782316919
SURF1
9 0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 0.700 0
dbSNP: rs79267946
rs79267946
CA8
2 1.000 0.160 8 60232322 stop gained T/A;C snv 0.700 0
dbSNP: rs80338700
rs80338700
PMM2
7 0.851 0.200 16 8806398 missense variant C/G;T snv 4.0E-06; 2.4E-05 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: rs80358257
rs80358257
NPC1
8 0.827 0.280 18 23538564 missense variant G/C snv 1.2E-04 2.1E-04 0.700 0
dbSNP: rs869312702
rs869312702
DNM1 ; CIZ1
10 0.827 0.160 9 128203609 missense variant G/A snv 0.700 0
dbSNP: rs121908214
rs121908214
CACNA1A
4 0.925 0.080 19 13230185 missense variant T/G snv 0.010 1.000 1 1998 1998
dbSNP: rs104894107
rs104894107
FXN
6 0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05 0.030 1.000 3 1999 2010
dbSNP: rs142157346
rs142157346
FXN
4 0.882 0.160 9 69053240 missense variant G/T snv 0.010 1.000 1 1999 1999
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: rs80356713
rs80356713
ABCB7
3 0.925 0.120 X 75070499 missense variant C/A;G snv 0.010 1.000 1 2001 2001
dbSNP: rs121908212
rs121908212
CACNA1A
14 0.732 0.160 19 13303877 missense variant G/A snv 0.020 1.000 2 2004 2018
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: rs28940893
rs28940893
ARSA
6 0.827 0.160 22 50625392 missense variant G/A snv 3.9E-04 3.6E-04 0.010 1.000 1 2006 2006