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: rs1561875767
rs1561875767
CUL7 ; KLC4
1.000 0.200 6 43041036 stop gained G/A snv
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		0.700 1.000 1 2019 2019
dbSNP: rs1561875767
rs1561875767
CUL7 ; KLC4
1.000 0.200 6 43041036 stop gained G/A snv
CUI: C2673410
Disease: Small midface
Small midface 		0.700 1.000 1 2019 2019
dbSNP: rs1561875767
rs1561875767
CUL7 ; KLC4
1.000 0.200 6 43041036 stop gained G/A snv
CUI: C1844505
Disease: Pointed chin
Pointed chin 		0.700 1.000 1 2019 2019
dbSNP: rs1561875767
rs1561875767
CUL7 ; KLC4
1.000 0.200 6 43041036 stop gained G/A snv
CUI: C0426818
Disease: Thin rib
Thin rib 		0.700 1.000 1 2019 2019
dbSNP: rs1561875767
rs1561875767
CUL7 ; KLC4
1.000 0.200 6 43041036 stop gained G/A snv
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		0.700 1.000 1 2019 2019
dbSNP: rs1561875767
rs1561875767
CUL7 ; KLC4
1.000 0.200 6 43041036 stop gained G/A snv
CUI: C1833144
Disease: Slender long bone
Slender long bone 		0.700 1.000 1 2019 2019
dbSNP: rs1561875767
rs1561875767
CUL7 ; KLC4
1.000 0.200 6 43041036 stop gained G/A snv
CUI: C0024003
Disease: Lordosis
Lordosis 		0.700 1.000 1 2019 2019
dbSNP: rs1561875767
rs1561875767
CUL7 ; KLC4
1.000 0.200 6 43041036 stop gained G/A snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 1.000 1 2019 2019
dbSNP: rs1561875767
rs1561875767
CUL7 ; KLC4
1.000 0.200 6 43041036 stop gained G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 1 2019 2019
dbSNP: rs1561875767
rs1561875767
CUL7 ; KLC4
1.000 0.200 6 43041036 stop gained G/A snv
CUI: C1835884
Disease: Triangular face
Triangular face 		0.700 1.000 1 2019 2019
dbSNP: rs1561875767
rs1561875767
CUL7 ; KLC4
1.000 0.200 6 43041036 stop gained G/A snv
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		0.700 1.000 1 2019 2019
dbSNP: rs1561875767
rs1561875767
CUL7 ; KLC4
1.000 0.200 6 43041036 stop gained G/A snv
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		0.700 1.000 1 2019 2019
dbSNP: rs1561875767
rs1561875767
CUL7 ; KLC4
1.000 0.200 6 43041036 stop gained G/A snv
CUI: C1864853
Disease: Increased vertebral height
Increased vertebral height 		0.700 1.000 1 2019 2019
dbSNP: rs1561875767
rs1561875767
CUL7 ; KLC4
1.000 0.200 6 43041036 stop gained G/A snv
CUI: C0426789
Disease: Short thorax
Short thorax 		0.700 1.000 1 2019 2019