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: rs1048764460
rs1048764460
COG4
1 1.000 0.040 16 70482809 stop gained C/A snv 5.6E-05 0.700 0
dbSNP: rs267606740
rs267606740
COG4
2 0.925 0.040 16 70481397 missense variant G/A snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs935855792
rs935855792
ETHE1
3 0.925 0.240 19 43511436 splice donor variant C/A;G;T snv 8.0E-06 0.700 0
dbSNP: rs1057518940
rs1057518940
RYR1
4 0.925 0.040 19 38499718 missense variant G/A snv 0.700 0
dbSNP: rs1057518966
rs1057518966
MUSK
4 1.000 0.040 9 110800743 missense variant G/A snv 0.700 0
dbSNP: rs1057521721
rs1057521721
GRIA3
5 0.851 0.200 X 123428020 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1554122123
rs1554122123
CAMK2A
5 0.925 0.040 5 150251979 splice donor variant -/A delins 0.700 1.000 1 2017 2017
dbSNP: rs1057518961
rs1057518961
DYNC1H1
5 0.925 0.040 14 102012450 missense variant C/T snv 0.700 0
dbSNP: rs267608463
rs267608463
MECP2
5 0.925 0.120 X 154032206 splice donor variant C/A;T snv 0.700 0
dbSNP: rs751889864
rs751889864
MUSK ; LOC107987115
5 0.925 0.120 9 110785664 missense variant T/A;C snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs763944786
rs763944786
RYR1
5 0.925 0.080 19 38469119 missense variant C/T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs1554122129
rs1554122129
CAMK2A
6 0.882 0.040 5 150252032 missense variant T/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1057518963
rs1057518963
OPHN1
6 0.851 0.200 X 68210239 missense variant A/G snv 0.700 0
dbSNP: rs1554121872
rs1554121872
CAMK2A
7 0.882 0.040 5 150250270 missense variant T/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1554121875
rs1554121875
CAMK2A
7 0.882 0.040 5 150250281 missense variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs1554123982
rs1554123982
CAMK2A
7 0.925 0.040 5 150273157 splice acceptor variant C/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1554385305
rs1554385305
CAMK2B
7 0.925 0.040 7 44241784 splice acceptor variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1057518950
rs1057518950
TPO
7 0.851 0.280 2 1484815 missense variant C/T snv 0.700 0
dbSNP: rs80358263
rs80358263
NPC2
7 0.827 0.280 14 74486378 stop gained G/T snv 8.4E-06 0.700 0
dbSNP: rs1554893835
rs1554893835
PTEN
8 0.827 0.240 10 87894110 splice donor variant G/C;T snv 0.700 0
dbSNP: rs756421370
rs756421370
MECR
8 0.807 0.120 1 29200513 splice donor variant -/A delins 1.4E-04 6.3E-05 0.700 0
dbSNP: rs886041287
rs886041287
TTN ; TTN-AS1
8 0.882 0.160 2 178535594 frameshift variant -/GT delins 0.700 0
dbSNP: rs1287121256
rs1287121256
CAMK2A
9 0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1554122526
rs1554122526
CAMK2A
9 0.882 0.040 5 150256811 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs61752992
rs61752992
MECP2
9 0.807 0.120 X 154030621 splice acceptor variant TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- delins 0.700 0