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: rs1057518794
rs1057518794
ARX
1 X 25004777 frameshift variant TCTG/- delins 0.700 0
dbSNP: rs1057519450
rs1057519450
HEATR4 ; ACOT1
1 14 73537826 frameshift variant AGCCGGTGCGCGCG/- delins 0.700 0
dbSNP: rs797046136
rs797046136
EBF3 ; LOC105378558
1 10 129848391 splice donor variant C/A snv 0.700 0
dbSNP: rs1561500885
rs1561500885
SMN1 ; SMN2
2 1.000 0.040 5 70946138 missense variant T/C snv 0.700 1.000 1 2007 2007
dbSNP: rs1057516031
rs1057516031
MTM1
3 1.000 0.080 X 150598681 stop gained G/T snv 0.700 1.000 1 2016 2016
dbSNP: rs777593389
rs777593389
VPS13B
3 1.000 0.320 8 99156693 stop gained C/T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057518928
rs1057518928
SOX5
3 1.000 0.040 12 23665471 missense variant G/A snv 0.700 0
dbSNP: rs1554301637
rs1554301637
LAMA2
3 0.925 0.120 6 129464289 splice acceptor variant TCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCTG/- delins 0.700 0
dbSNP: rs1555736565
rs1555736565
CACNA1A
3 0.925 0.080 19 13230191 missense variant C/A;T snv 0.700 0
dbSNP: rs1057516032
rs1057516032
ATP1A3
4 1.000 19 41970211 protein altering variant AGTCT/GA delins 0.700 1.000 1 2016 2016
dbSNP: rs1553654413
rs1553654413
ITPR1
4 0.925 0.240 3 4627877 splice region variant CGTA/- delins 0.700 1.000 1 2018 2018
dbSNP: rs767961672
rs767961672
FOXG1
4 0.925 0.200 14 28767822 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs775835429
rs775835429
SLC19A3
4 0.925 0.040 2 227702236 frameshift variant -/TC delins 2.4E-05 2.1E-05 0.700 1.000 1 2016 2016
dbSNP: rs1085307451
rs1085307451
DHX30 ; MIR1226
4 0.925 0.160 3 47848246 missense variant C/T snv 0.700 0
dbSNP: rs1554558365
rs1554558365
TMEM67
4 0.925 0.120 8 93804851 inframe insertion -/TATGAA delins 0.700 0
dbSNP: rs397514582
rs397514582
KCNQ2
4 0.925 20 63439656 missense variant C/A;T snv 0.700 0
dbSNP: rs748190164
rs748190164
HEXA
4 0.925 0.160 15 72356531 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs750371878
rs750371878
HACE1
4 0.925 6 104796666 stop gained G/A snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs782609482
rs782609482
SURF1
4 1.000 0.120 9 133352060 splice donor variant C/A;T snv 4.1E-06 0.700 0
dbSNP: rs869312664
rs869312664
SCN2A
4 0.925 0.160 2 165386920 stop gained G/A;T snv 0.700 0
dbSNP: rs878853163
rs878853163
SATB2
4 0.925 0.200 2 199323850 stop gained T/A;C snv 0.700 0
dbSNP: rs1057519567
rs1057519567
MDH2
5 0.882 0.040 7 76063554 frameshift variant G/- delins 0.700 1.000 1 2017 2017
dbSNP: rs121434578
rs121434578
ABAT
5 1.000 0.080 16 8768248 missense variant G/A snv 0.700 1.000 1 2010 2010
dbSNP: rs145999922
rs145999922
SLC19A3
5 0.882 0.040 2 227699378 missense variant A/G snv 4.4E-05 4.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs1561498701
rs1561498701
SMN1 ; SMN2
5 1.000 0.080 5 70925150 frameshift variant -/GGATTCCG delins 0.700 1.000 1 2013 2013