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: rs1060505041
rs1060505041
0.716 0.400 19 13136099 missense variant C/A;T snv
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION
0.800 1.000 1 2017 2017
dbSNP: rs1060505041
rs1060505041
0.716 0.400 19 13136099 missense variant C/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 3 2014 2017
dbSNP: rs1060505041
rs1060505041
0.716 0.400 19 13136099 missense variant C/A;T snv
CUI: C1837142
Disease: Poor suck
Poor suck
0.700 0
dbSNP: rs1060505041
rs1060505041
0.716 0.400 19 13136099 missense variant C/A;T snv
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
0.700 0
dbSNP: rs1060505041
rs1060505041
0.716 0.400 19 13136099 missense variant C/A;T snv
CUI: C0267071
Disease: Oropharyngeal Dysphagia
Oropharyngeal Dysphagia
0.700 0
dbSNP: rs1060505041
rs1060505041
0.716 0.400 19 13136099 missense variant C/A;T snv
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment
0.700 0
dbSNP: rs1060505041
rs1060505041
0.716 0.400 19 13136099 missense variant C/A;T snv
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
0.700 0
dbSNP: rs1060505041
rs1060505041
0.716 0.400 19 13136099 missense variant C/A;T snv
CUI: C2673410
Disease: Small midface
Small midface
0.700 0
dbSNP: rs1060505041
rs1060505041
0.716 0.400 19 13136099 missense variant C/A;T snv
CUI: C3888417
Disease: CATARACT 5, MULTIPLE TYPES
CATARACT 5, MULTIPLE TYPES
0.700 0
dbSNP: rs1060505041
rs1060505041
0.716 0.400 19 13136099 missense variant C/A;T snv
CUI: C3808046
Disease: Breathing dysregulation
Breathing dysregulation
0.700 0
dbSNP: rs1060505041
rs1060505041
0.716 0.400 19 13136099 missense variant C/A;T snv
CUI: C1277241
Disease: Delayed myelination
Delayed myelination
0.700 0
dbSNP: rs1060505041
rs1060505041
0.716 0.400 19 13136099 missense variant C/A;T snv
CUI: C4317146
Disease: Acid reflux
Acid reflux
0.700 0
dbSNP: rs1060505041
rs1060505041
0.716 0.400 19 13136099 missense variant C/A;T snv
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
0.700 0
dbSNP: rs1060505041
rs1060505041
0.716 0.400 19 13136099 missense variant C/A;T snv
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy
0.700 0
dbSNP: rs1060505041
rs1060505041
0.716 0.400 19 13136099 missense variant C/A;T snv
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease
0.700 0
dbSNP: rs1060505041
rs1060505041
0.716 0.400 19 13136099 missense variant C/A;T snv
CUI: C0521525
Disease: Short neck
Short neck
0.700 0
dbSNP: rs1060505041
rs1060505041
0.716 0.400 19 13136099 missense variant C/A;T snv
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
0.700 0
dbSNP: rs1060505041
rs1060505041
0.716 0.400 19 13136099 missense variant C/A;T snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
0.700 0
dbSNP: rs1060505041
rs1060505041
0.716 0.400 19 13136099 missense variant C/A;T snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.700 0
dbSNP: rs1060505041
rs1060505041
0.716 0.400 19 13136099 missense variant C/A;T snv
CUI: C1861324
Disease: Short philtrum
Short philtrum
0.700 0
dbSNP: rs1060505041
rs1060505041
0.716 0.400 19 13136099 missense variant C/A;T snv
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central
0.700 0
dbSNP: rs1060505041
rs1060505041
0.716 0.400 19 13136099 missense variant C/A;T snv
CUI: C1850629
Disease: Exaggerated cupid's bow
Exaggerated cupid's bow
0.700 0
dbSNP: rs1060505041
rs1060505041
0.716 0.400 19 13136099 missense variant C/A;T snv
CUI: C4023634
Disease: Echogenic intracardiac focus
Echogenic intracardiac focus
0.700 0
dbSNP: rs1060505041
rs1060505041
0.716 0.400 19 13136099 missense variant C/A;T snv
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow
0.700 0
dbSNP: rs1060505041
rs1060505041
0.716 0.400 19 13136099 missense variant C/A;T snv
CUI: C3276623
Disease: Toenail dysplasia
Toenail dysplasia
0.700 0