SF3B4, splicing factor 3b subunit 4, 10262

N. diseases: 110; N. variants: 22
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907186
rs387907186
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene. 27642715 2016
dbSNP: rs387907186
rs387907186
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
CUI: C0000772
Disease:
Multiple congenital anomalies 		TG 0.700 CausalMutation CLINVAR Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene. 27642715 2016
dbSNP: rs387907186
rs387907186
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
CUI: C0432072
Disease:
Dysmorphic features 		TG 0.700 CausalMutation CLINVAR Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene. 27642715 2016
dbSNP: rs387907186
rs387907186
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
CUI: C0000772
Disease:
Multiple congenital anomalies 		TG 0.700 CausalMutation CLINVAR Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause. 24003905 2014
dbSNP: rs387907186
rs387907186
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
CUI: C0000772
Disease:
Multiple congenital anomalies 		TG 0.700 CausalMutation CLINVAR Rodriguez syndrome with SF3B4 mutation: a severe form of Nager syndrome? 24715698 2014
dbSNP: rs387907186
rs387907186
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
CUI: C0432072
Disease:
Dysmorphic features 		TG 0.700 CausalMutation CLINVAR Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause. 24003905 2014
dbSNP: rs387907186
rs387907186
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Rodriguez syndrome with SF3B4 mutation: a severe form of Nager syndrome? 24715698 2014
dbSNP: rs387907186
rs387907186
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
CUI: C0432072
Disease:
Dysmorphic features 		TG 0.700 CausalMutation CLINVAR Rodriguez syndrome with SF3B4 mutation: a severe form of Nager syndrome? 24715698 2014
dbSNP: rs387907186
rs387907186
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause. 24003905 2014
dbSNP: rs387907186
rs387907186
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
CUI: C0432072
Disease:
Dysmorphic features 		TG 0.700 CausalMutation CLINVAR Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. 23568615 2013
dbSNP: rs387907186
rs387907186
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
CUI: C0000772
Disease:
Multiple congenital anomalies 		TG 0.700 CausalMutation CLINVAR Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. 23568615 2013
dbSNP: rs387907186
rs387907186
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. 23568615 2013
dbSNP: rs387907185
rs387907185
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
CUI: C0265245
Disease:
Nager syndrome 		C 0.700 CausalMutation CLINVAR Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. 22541558 2012
dbSNP: rs387907186
rs387907186
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
CUI: C0000772
Disease:
Multiple congenital anomalies 		TG 0.700 CausalMutation CLINVAR Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. 22541558 2012
dbSNP: rs387907186
rs387907186
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. 22541558 2012
dbSNP: rs387907186
rs387907186
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
CUI: C0265245
Disease:
Nager syndrome 		TG 0.700 CausalMutation CLINVAR Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. 22541558 2012
dbSNP: rs387907186
rs387907186
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
CUI: C0265245
Disease:
Nager syndrome 		T 0.700 CausalMutation CLINVAR Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. 22541558 2012
dbSNP: rs387907186
rs387907186
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
CUI: C0432072
Disease:
Dysmorphic features 		TG 0.700 CausalMutation CLINVAR Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. 22541558 2012
dbSNP: rs782357237
rs782357237
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
CUI: C0265245
Disease:
Nager syndrome 		CG 0.700 CausalMutation CLINVAR Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. 22541558 2012
dbSNP: rs797045121
rs797045121
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
CUI: C0265245
Disease:
Nager syndrome 		C 0.700 CausalMutation CLINVAR Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. 22541558 2012
dbSNP: rs797045122
rs797045122
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
CUI: C0265245
Disease:
Nager syndrome 		T 0.700 CausalMutation CLINVAR Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. 22541558 2012
dbSNP: rs797045123
rs797045123
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
CUI: C0265245
Disease:
Nager syndrome 		A 0.700 CausalMutation CLINVAR Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. 22541558 2012
dbSNP: rs797045124
rs797045124
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
CUI: C0265245
Disease:
Nager syndrome 		AT 0.700 CausalMutation CLINVAR Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. 22541558 2012
dbSNP: rs797045125
rs797045125
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
CUI: C0265245
Disease:
Nager syndrome 		T 0.700 CausalMutation CLINVAR Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. 22541558 2012
dbSNP: rs797045126
rs797045126
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
CUI: C0265245
Disease:
Nager syndrome 		C 0.700 CausalMutation CLINVAR Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. 22541558 2012