FIG4, FIG4 phosphoinositide 5-phosphatase, 9896

N. diseases: 223; N. variants: 32
Disease: Yunis Varon syndrome ×
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: rs397509395
rs397509395 		1.000 0.160 6 109727130 missense variant G/A snv
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 1 2013 2013
dbSNP: rs397514707
rs397514707 		1.000 0.160 6 109735176 missense variant T/C snv 7.0E-06
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 1 2013 2013
dbSNP: rs397509394
rs397509394 		1.000 0.160 6 109760372 frameshift variant GT/- del
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs776005417
rs776005417 		0.851 0.240 6 109738415 stop gained G/A snv 3.2E-05 2.2E-04
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs786200937
rs786200937 		1.000 0.160 6 109741498 frameshift variant TAAATTTG/- delins 2.1E-05
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0