EBF3, EBF transcription factor 3, 253738

N. diseases: 124; N. variants: 15
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT 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: rs779003155
rs779003155 		1.000 10 129877779 missense variant G/A;T snv 4.0E-06
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		0.800 1.000 3 2017 2017
dbSNP: rs869312668
rs869312668 		1.000 10 129957282 missense variant G/A snv
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		0.800 1.000 3 2017 2017
dbSNP: rs1057519389
rs1057519389 		0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		0.800 0
dbSNP: rs1057519518
rs1057519518 		1.000 10 129963462 missense variant T/C snv
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		0.800 0
dbSNP: rs1057519519
rs1057519519 		1.000 10 129958997 missense variant T/C snv
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		0.800 0
dbSNP: rs1057519520
rs1057519520 		1.000 10 129877825 missense variant C/A snv
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		0.800 0
dbSNP: rs1057519437
rs1057519437 		0.851 0.240 10 129957300 missense variant C/T snv
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		0.700 0
dbSNP: rs1057519521
rs1057519521 		0.851 0.120 10 129963375 frameshift variant TCTC/- del
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		0.700 0
dbSNP: rs1057519522
rs1057519522 		1.000 10 129877788 stop gained G/A snv
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		0.700 0
dbSNP: rs1554904330
rs1554904330 		1.000 10 129877811 missense variant C/T snv
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		0.700 0
dbSNP: rs1554934855
rs1554934855 		1.000 10 129957258 missense variant C/T snv
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		0.700 0
dbSNP: rs1564927062
rs1564927062 		1.000 10 129958957 missense variant CA/AG mnv
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		0.700 0