Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs869320711
rs869320711
1.000 4 106233045 missense variant C/T snv 4.0E-06
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
0.800 1.000 3 2015 2016
dbSNP: rs1057518332
rs1057518332
1.000 4 106230366 stop gained G/A snv 4.0E-06
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
0.700 1.000 3 2013 2016
dbSNP: rs575822089
rs575822089
0.882 0.120 4 106262103 stop gained G/A snv 7.7E-05 2.2E-04
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
0.700 1.000 2 2016 2016
dbSNP: rs869320769
rs869320769
1.000 4 106247238 frameshift variant -/AT delins
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
0.700 1.000 1 2016 2016
dbSNP: rs1560755661
rs1560755661
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
0.700 0
dbSNP: rs1560929669
rs1560929669
1.000 4 106262116 frameshift variant ATTA/- del
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
0.700 0
dbSNP: rs374319146
rs374319146
0.851 0.080 4 106194717 splice donor variant C/A;T snv 4.3E-06; 8.7E-06
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
0.700 0
dbSNP: rs376699648
rs376699648
1.000 4 106235355 stop gained T/A snv 2.0E-05 2.8E-05
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
0.700 0
dbSNP: rs62321379
rs62321379
1.000 4 106171272 splice acceptor variant T/C snv 3.0E-05 4.9E-05
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
0.700 0
dbSNP: rs746860249
rs746860249
1.000 4 106235348 frameshift variant T/-;TT delins
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
0.700 0
dbSNP: rs771481304
rs771481304
1.000 4 106247264 frameshift variant CATT/- delins 5.6E-05
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
0.700 0