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: rs587783604
rs587783604 		1.000 0.040 X 48524062 frameshift variant TCTCA/- delins
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.700 0
dbSNP: rs587783605
rs587783605 		1.000 0.040 X 48524070 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: rs587783606
rs587783606 		1.000 0.040 X 48524074 splice donor variant T/A snv
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.700 0
dbSNP: rs587783607
rs587783607 		1.000 0.040 X 48526990 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: rs587783608
rs587783608 		1.000 0.040 X 48526991 stop gained A/C;T snv
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.700 0
dbSNP: rs587783609
rs587783609 		1.000 0.040 X 48526997 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: rs587783610
rs587783610 		1.000 0.040 X 48526998 missense variant A/G snv
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.700 0
dbSNP: rs587783611
rs587783611 		1.000 0.040 X 48527001 missense variant C/A snv
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.700 0
dbSNP: rs587783612
rs587783612 		1.000 0.040 X 48527007 missense variant G/A;C snv 5.4E-06
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.700 0
dbSNP: rs587783614
rs587783614 		1.000 0.040 X 48527018 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: rs587783615
rs587783615 		1.000 0.040 X 48527277 frameshift variant CT/- delins
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.700 0
dbSNP: rs587783616
rs587783616 		1.000 0.040 X 48528244 stop gained T/G snv
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.700 0
dbSNP: rs587783617
rs587783617 		1.000 0.040 X 48528245 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
dbSNP: rs587783618
rs587783618 		1.000 0.040 X 48528291 missense variant A/G snv
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.700 0
dbSNP: rs587783619
rs587783619 		1.000 0.040 X 48528396 missense variant T/G snv
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.700 0
dbSNP: rs797045542
rs797045542 		1.000 0.040 X 48523969 inframe insertion -/CTG delins
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.700 0
dbSNP: rs797045543
rs797045543 		1.000 0.040 X 48523994 frameshift variant -/T delins
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.700 0
dbSNP: rs797045544
rs797045544 		1.000 0.040 X 48527015 stop gained -/GATA delins
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.700 0
dbSNP: rs797045545
rs797045545 		1.000 0.040 X 48527185 protein altering variant CATCACAGCTT/AG delins
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.700 0
dbSNP: rs797045546
rs797045546 		1.000 0.040 X 48527239 frameshift variant CCGCC/T delins
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.700 0
dbSNP: rs797045547
rs797045547 		1.000 0.040 X 48528244 frameshift variant -/G delins
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		Musculoskeletal Diseases 0.700 0