rs1057519437, EBF3

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Allanson Pantzar McLeod syndrome
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
23 0.851 0.240 10 129957300 missense variant C/T snv 0.700 0
Broad-based gait
CUI: C0856863
Disease: Broad-based gait
24 0.851 0.240 10 129957300 missense variant C/T snv 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.851 0.240 10 129957300 missense variant C/T snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.851 0.240 10 129957300 missense variant C/T snv 0.700 0
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
12 0.851 0.240 10 129957300 missense variant C/T snv 0.700 0
Neurogenic Urinary Bladder
CUI: C0005697
Disease: Neurogenic Urinary Bladder
9 0.851 0.240 10 129957300 missense variant C/T snv 0.700 0