SF3B4, splicing factor 3b subunit 4, 10262

N. diseases: 110; N. variants: 22
Disease: Nager 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: rs387907185
rs387907185 		1.000 0.120 1 149927759 start lost T/C snv
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs387907186
rs387907186 		0.925 0.120 1 149923670 frameshift variant G/-;GG delins
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs782357237
rs782357237 		1.000 0.120 1 149923867 frameshift variant -/G delins
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs797045121
rs797045121 		1.000 0.120 1 149923559 frameshift variant CTCGAAG/- del
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs797045122
rs797045122 		1.000 0.120 1 149923585 frameshift variant G/- delins
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs797045123
rs797045123 		1.000 0.120 1 149923618 frameshift variant G/- delins
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs797045124
rs797045124 		1.000 0.120 1 149923668 frameshift variant -/T delins
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs797045125
rs797045125 		1.000 0.120 1 149925835 splice donor variant C/T snv
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs797045126
rs797045126 		1.000 0.120 1 149925885 frameshift variant A/- del
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs797045127
rs797045127 		1.000 0.120 1 149925912 frameshift variant -/ATACCCC delins
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs797045128
rs797045128 		1.000 0.120 1 149925922 frameshift variant GGG/-;GG;GGGG delins
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs797045129
rs797045129 		1.000 0.120 1 149925952 frameshift variant -/T delins
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs797045130
rs797045130 		1.000 0.120 1 149925980 frameshift variant T/- del
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs797045131
rs797045131 		1.000 0.120 1 149926417 frameshift variant -/TGGG delins 4.0E-06
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs797045132
rs797045132 		1.000 0.120 1 149926457 stop gained G/A snv
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs797045133
rs797045133 		1.000 0.120 1 149926630 stop gained G/T snv
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs797045134
rs797045134 		1.000 0.120 1 149927241 frameshift variant A/- del
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs397515324
rs397515324 		1.000 0.120 1 149923922 stop gained G/A snv
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs797045954
rs797045954 		0.851 0.160 1 149923568 frameshift variant TCGAGGGGGAACTGGTGGCC/- delins
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs797045955
rs797045955 		1.000 0.120 1 149926889 stop gained C/A snv
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs797045956
rs797045956 		1.000 0.120 1 149927283 frameshift variant CA/- delins
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs797045957
rs797045957 		1.000 0.120 1 149926006 frameshift variant CACTGGGGGTGGG/- delins
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0