EBP, EBP cholestenol delta-isomerase, 10682

N. diseases: 243; N. variants: 42
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: rs587783599
rs587783599 		0.925 0.040 X 48523912 missense variant G/T snv
CUI: C4085243
Disease: MEND SYNDROME
MEND SYNDROME 		0.800 1.000 4 2003 2014
dbSNP: rs587783613
rs587783613 		0.925 0.120 X 48527015 stop gained C/T snv
CUI: C0265267
Disease: Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2007 2007
dbSNP: rs797045153
rs797045153 		0.925 0.040 X 48523995 missense variant T/A snv
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.010 1.000 1 2014 2014
dbSNP: rs878854358
rs878854358 		0.925 0.160 X 48523804 stop gained C/A snv
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs587783599
rs587783599 		0.925 0.040 X 48523912 missense variant G/T snv
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.700 0
dbSNP: rs587783613
rs587783613 		0.925 0.120 X 48527015 stop gained C/T snv
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.700 0
dbSNP: rs797045153
rs797045153 		0.925 0.040 X 48523995 missense variant T/A snv
CUI: C4085243
Disease: MEND SYNDROME
MEND SYNDROME 		0.800 0
dbSNP: rs878854358
rs878854358 		0.925 0.160 X 48523804 stop gained C/A snv
CUI: C4016464
Disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL
CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL 		0.700 0
dbSNP: rs104894800
rs104894800 		1.000 0.040 X 48524009 missense variant G/A snv
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.800 1.000 6 1999 2015
dbSNP: rs28935174
rs28935174 		1.000 0.040 X 48527256 missense variant G/A snv
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.800 1.000 6 1999 2015
dbSNP: rs104894795
rs104894795 		1.000 X 48523824 missense variant T/C snv
CUI: C4085243
Disease: MEND SYNDROME
MEND SYNDROME 		0.800 1.000 4 2003 2014
dbSNP: rs878854359
rs878854359 		1.000 X 48523910 missense variant T/C snv
CUI: C4085243
Disease: MEND SYNDROME
MEND SYNDROME 		0.800 1.000 4 2003 2014
dbSNP: rs104894792
rs104894792 		1.000 0.040 X 48527202 stop gained G/A snv
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.700 0
dbSNP: rs104894793
rs104894793 		1.000 0.040 X 48528287 stop gained C/T snv
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.700 0
dbSNP: rs104894794
rs104894794 		1.000 0.040 X 48528351 stop gained G/A snv
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.700 0
dbSNP: rs104894798
rs104894798 		1.000 0.040 X 48523858 stop gained G/A snv
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.700 0
dbSNP: rs104894799
rs104894799 		1.000 0.040 X 48523958 stop gained C/T snv
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.700 0
dbSNP: rs141925556
rs141925556 		1.000 0.040 X 48528275 missense variant C/T snv 6.4E-04 6.4E-04
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1569479885
rs1569479885 		1.000 0.040 X 48527026 splice donor variant G/T snv
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1569479901
rs1569479901 		1.000 0.040 X 48527206 frameshift variant A/- del
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1569480016
rs1569480016 		1.000 0.040 X 48528350 stop gained -/A ins
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.700 0
dbSNP: rs587783600
rs587783600 		1.000 0.040 X 48523953 stop gained G/A snv
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.700 0
dbSNP: rs587783601
rs587783601 		1.000 0.040 X 48523975 missense variant G/T snv
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.700 0
dbSNP: rs587783602
rs587783602 		1.000 0.040 X 48523985 missense variant T/C snv
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.700 0
dbSNP: rs587783603
rs587783603 		1.000 0.040 X 48523989 missense variant G/A snv
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.700 0