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: rs1561892336
rs1561892336
CUL7 ; KLC4
0.807 0.200 6 43050050 stop gained C/T snv
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		0.700 1.000 1 2019 2019
dbSNP: rs1561892336
rs1561892336
CUL7 ; KLC4
0.807 0.200 6 43050050 stop gained C/T snv
CUI: C0024003
Disease: Lordosis
Lordosis 		0.700 1.000 1 2019 2019
dbSNP: rs1561892336
rs1561892336
CUL7 ; KLC4
0.807 0.200 6 43050050 stop gained C/T snv
CUI: C0426789
Disease: Short thorax
Short thorax 		0.700 1.000 1 2019 2019
dbSNP: rs1561892336
rs1561892336
CUL7 ; KLC4
0.807 0.200 6 43050050 stop gained C/T snv
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow 		0.700 1.000 1 2019 2019
dbSNP: rs1561892336
rs1561892336
CUL7 ; KLC4
0.807 0.200 6 43050050 stop gained C/T snv
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.700 1.000 1 2019 2019
dbSNP: rs1561892336
rs1561892336
CUL7 ; KLC4
0.807 0.200 6 43050050 stop gained C/T snv
CUI: C1835884
Disease: Triangular face
Triangular face 		0.700 1.000 1 2019 2019
dbSNP: rs1561892336
rs1561892336
CUL7 ; KLC4
0.807 0.200 6 43050050 stop gained C/T snv
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		0.700 1.000 1 2019 2019
dbSNP: rs1561892336
rs1561892336
CUL7 ; KLC4
0.807 0.200 6 43050050 stop gained C/T snv
CUI: C3536734
Disease: Hypoplastic pelvis
Hypoplastic pelvis 		0.700 1.000 1 2019 2019
dbSNP: rs1561892336
rs1561892336
CUL7 ; KLC4
0.807 0.200 6 43050050 stop gained C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 1 2019 2019
dbSNP: rs1561892336
rs1561892336
CUL7 ; KLC4
0.807 0.200 6 43050050 stop gained C/T snv
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		0.700 1.000 1 2019 2019
dbSNP: rs1561892336
rs1561892336
CUL7 ; KLC4
0.807 0.200 6 43050050 stop gained C/T snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 1.000 1 2019 2019
dbSNP: rs1561892336
rs1561892336
CUL7 ; KLC4
0.807 0.200 6 43050050 stop gained C/T snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.700 1.000 1 2019 2019
dbSNP: rs1561892336
rs1561892336
CUL7 ; KLC4
0.807 0.200 6 43050050 stop gained C/T snv
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		0.700 1.000 1 2019 2019