rs878853169, NBEA

N. diseases: 4
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.
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 1.000 0.160 13 35550528 stop gained C/T snv 0.700 1.000 1 2018 2018
Limitation of joint mobility
CUI: C1857108
Disease: Limitation of joint mobility
3 1.000 0.160 13 35550528 stop gained C/T snv 0.700 1.000 1 2018 2018
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 1.000 0.160 13 35550528 stop gained C/T snv 0.700 1.000 1 2018 2018
Seizures
CUI: C0036572
Disease: Seizures
553 1.000 0.160 13 35550528 stop gained C/T snv 0.700 1.000 1 2018 2018