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: rs1085307101
rs1085307101
TRIP11
1.000 0.080 14 92005475 frameshift variant TTAT/- delins
CUI: C0265273
Disease: Achondrogenesis type 1A
Achondrogenesis type 1A 		0.700 1.000 1 2010 2010
dbSNP: rs149079426
rs149079426
TRIP11
1.000 0.120 14 92021558 stop gained G/A;C snv 4.0E-06
CUI: C2745953
Disease: Spondylometaphyseal dysplasia with dentinogenesis imperfecta
Spondylometaphyseal dysplasia with dentinogenesis imperfecta 		0.700 1.000 1 2019 2019
dbSNP: rs1566843321
rs1566843321
TRIP11
1.000 0.120 14 91975213 missense variant T/C snv
CUI: C2745953
Disease: Spondylometaphyseal dysplasia with dentinogenesis imperfecta
Spondylometaphyseal dysplasia with dentinogenesis imperfecta 		0.700 1.000 1 2019 2019
dbSNP: rs1566863801
rs1566863801
TRIP11
1.000 0.120 14 92011072 missense variant C/A snv
CUI: C2745953
Disease: Spondylometaphyseal dysplasia with dentinogenesis imperfecta
Spondylometaphyseal dysplasia with dentinogenesis imperfecta 		0.700 1.000 1 2019 2019
dbSNP: rs267607138
rs267607138
TRIP11
0.925 0.120 14 92015729 stop gained G/A;T snv 2.0E-05
CUI: C2745953
Disease: Spondylometaphyseal dysplasia with dentinogenesis imperfecta
Spondylometaphyseal dysplasia with dentinogenesis imperfecta 		0.700 1.000 1 2019 2019
dbSNP: rs780625551
rs780625551
TRIP11
1.000 0.120 14 92003442 stop gained G/A;C snv 4.0E-06
CUI: C2745953
Disease: Spondylometaphyseal dysplasia with dentinogenesis imperfecta
Spondylometaphyseal dysplasia with dentinogenesis imperfecta 		0.700 1.000 1 2019 2019
dbSNP: rs1053206465
rs1053206465
TRIP11
1.000 0.080 14 92005419 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C0265273
Disease: Achondrogenesis type 1A
Achondrogenesis type 1A 		0.700 0
dbSNP: rs1294029121
rs1294029121
TRIP11
1.000 0.080 14 92005669 frameshift variant TTGA/- delins 4.0E-06
CUI: C0265273
Disease: Achondrogenesis type 1A
Achondrogenesis type 1A 		0.700 0
dbSNP: rs139539448
rs139539448
TRIP11
1.000 0.080 14 92005874 missense variant T/C snv 1.7E-03 2.1E-03
CUI: C0265273
Disease: Achondrogenesis type 1A
Achondrogenesis type 1A 		0.700 0
dbSNP: rs1400419650
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.700 0
dbSNP: rs1400419650
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 0
dbSNP: rs1400419650
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1400419650
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05
CUI: C1863008
Disease: Yellow-brown discoloration of the teeth
Yellow-brown discoloration of the teeth 		0.700 0
dbSNP: rs1400419650
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1400419650
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.700 0
dbSNP: rs1400419650
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05
CUI: C0345371
Disease: Hypoplasia of lower limb
Hypoplasia of lower limb 		0.700 0
dbSNP: rs1400419650
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs1400419650
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		0.700 0
dbSNP: rs1400419650
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05
CUI: C0265294
Disease: Pyle metaphyseal dysplasia
Pyle metaphyseal dysplasia 		0.700 0
dbSNP: rs1400419650
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05
CUI: C0024003
Disease: Lordosis
Lordosis 		0.700 0
dbSNP: rs1400419650
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		0.700 0
dbSNP: rs1400419650
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.700 0
dbSNP: rs1400419650
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05
CUI: C0549306
Disease: Mesomelia
Mesomelia 		0.700 0
dbSNP: rs1400419650
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05
CUI: C4023675
Disease: Acromelia
Acromelia 		0.700 0
dbSNP: rs1400419650
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.700 0