Disease: Pena-Shokeir syndrome type I ×
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: rs104894299
rs104894299 		0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 9 2002 2014
dbSNP: rs786200905
rs786200905 		0.882 0.120 11 47449174 upstream gene variant T/C snv 2.1E-05
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 5 2003 2012
dbSNP: rs121909254
rs121909254 		0.925 0.080 11 47448832 missense variant C/A;G;T snv 4.0E-06; 3.6E-05
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2007 2009
dbSNP: rs1479498379
rs1479498379 		0.925 0.080 11 47447973 stop gained G/A snv 4.0E-06
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555142603
rs1555142603 		0.925 0.080 11 47441670 stop gained G/A snv
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121909255
rs121909255 		0.925 0.080 11 47447859 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2017 2017