Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519437
rs1057519437
EBF3
0.851 0.240 10 129957300 missense variant C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1057519437
rs1057519437
EBF3
0.851 0.240 10 129957300 missense variant C/T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs1057519437
rs1057519437
EBF3
0.851 0.240 10 129957300 missense variant C/T snv
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder 		0.700 0
dbSNP: rs1057519437
rs1057519437
EBF3
0.851 0.240 10 129957300 missense variant C/T snv
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.700 0
dbSNP: rs1057519437
rs1057519437
EBF3
0.851 0.240 10 129957300 missense variant C/T snv
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		0.700 0