GSC-DT, GSC divergent transcript, 108868751

N. diseases: 2; N. variants: 3
Source: ALL
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: rs587777288
rs587777288 		1.000 0.040 14 94769804 frameshift variant AGGCCCGCGCCGCCGGG/- delins
CUI: C1865361
Disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES 		Musculoskeletal Diseases 0.700 0
dbSNP: rs587777289
rs587777289 		1.000 0.040 14 94769173 stop gained G/A;T snv
CUI: C1865361
Disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES 		Musculoskeletal Diseases 0.700 0
dbSNP: rs587777290
rs587777290 		1.000 0.040 14 94769660 splice donor variant C/G snv
CUI: C1865361
Disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES 		Musculoskeletal Diseases 0.700 0