Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs114925667
rs114925667
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
0.800 1.000 2 2016 2016
dbSNP: rs114925667
rs114925667
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms
0.700 1.000 4 2016 2017
dbSNP: rs114925667
rs114925667
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C1854882
Disease: Absent speech
Absent speech
0.700 0
dbSNP: rs114925667
rs114925667
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal
0.700 0
dbSNP: rs114925667
rs114925667
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion
0.700 0
dbSNP: rs114925667
rs114925667
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment
0.700 0
dbSNP: rs114925667
rs114925667
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C1836038
Disease: Poor head control
Poor head control
0.700 0
dbSNP: rs114925667
rs114925667
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis
0.700 0
dbSNP: rs114925667
rs114925667
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia
0.700 0
dbSNP: rs114925667
rs114925667
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.700 0
dbSNP: rs114925667
rs114925667
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
0.700 0
dbSNP: rs114925667
rs114925667
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0267071
Disease: Oropharyngeal Dysphagia
Oropharyngeal Dysphagia
0.700 0
dbSNP: rs114925667
rs114925667
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C1849043
Disease: Soft, doughy skin
Soft, doughy skin
0.700 0
dbSNP: rs114925667
rs114925667
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone
0.700 0
dbSNP: rs114925667
rs114925667
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
0.700 0
dbSNP: rs114925667
rs114925667
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0014877
Disease: Esotropia
Esotropia
0.700 0
dbSNP: rs114925667
rs114925667
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C4021758
Disease: Delayed CNS myelination
Delayed CNS myelination
0.700 0
dbSNP: rs114925667
rs114925667
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0002418
Disease: Amblyopia
Amblyopia
0.700 0
dbSNP: rs114925667
rs114925667
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0269269
Disease: Inversion of nipple (disorder)
Inversion of nipple (disorder)
0.700 0
dbSNP: rs114925667
rs114925667
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.700 0
dbSNP: rs114925667
rs114925667
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear
0.700 0
dbSNP: rs114925667
rs114925667
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis
0.700 0
dbSNP: rs114925667
rs114925667
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy
0.700 0
dbSNP: rs114925667
rs114925667
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C4021227
Disease: Underdeveloped nasolabial fold
Underdeveloped nasolabial fold
0.700 0
dbSNP: rs114925667
rs114925667
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement
0.700 0