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: rs119103263
rs119103263
0.827 0.240 1 11992659 missense variant C/T snv
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
0.800 0
dbSNP: rs119103263
rs119103263
0.827 0.240 1 11992659 missense variant C/T snv
CUI: C0574769
Disease: Loss of scalp hair
Loss of scalp hair
0.700 0
dbSNP: rs119103263
rs119103263
0.827 0.240 1 11992659 missense variant C/T snv
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal
0.700 0
dbSNP: rs119103263
rs119103263
0.827 0.240 1 11992659 missense variant C/T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 0
dbSNP: rs119103263
rs119103263
0.827 0.240 1 11992659 missense variant C/T snv
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2A
0.700 0
dbSNP: rs119103263
rs119103263
0.827 0.240 1 11992659 missense variant C/T snv
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness
0.700 0
dbSNP: rs119103263
rs119103263
0.827 0.240 1 11992659 missense variant C/T snv
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation
0.700 0
dbSNP: rs119103263
rs119103263
0.827 0.240 1 11992659 missense variant C/T snv
CUI: C3806301
Disease: Scarring alopecia of scalp
Scarring alopecia of scalp
0.700 0
dbSNP: rs119103263
rs119103263
0.827 0.240 1 11992659 missense variant C/T snv
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition
0.700 0
dbSNP: rs119103263
rs119103263
0.827 0.240 1 11992659 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs119103263
rs119103263
0.827 0.240 1 11992659 missense variant C/T snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.700 0
dbSNP: rs119103263
rs119103263
0.827 0.240 1 11992659 missense variant C/T snv
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin
0.700 0
dbSNP: rs119103263
rs119103263
0.827 0.240 1 11992659 missense variant C/T snv
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium
0.700 0
dbSNP: rs119103263
rs119103263
0.827 0.240 1 11992659 missense variant C/T snv
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile
0.700 0
dbSNP: rs119103263
rs119103263
0.827 0.240 1 11992659 missense variant C/T snv
CUI: C0008767
Disease: Cicatrization
Cicatrization
0.700 0
dbSNP: rs119103263
rs119103263
0.827 0.240 1 11992659 missense variant C/T snv
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel
0.700 0
dbSNP: rs119103263
rs119103263
0.827 0.240 1 11992659 missense variant C/T snv
Hereditary Motor and Sensory-Neuropathy Type II
0.700 1.000 10 2004 2016