rs1554041295, ZSWIM6

N. diseases: 2
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.
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.925 0.160 5 61541917 stop gained C/T snv 0.700 1.000 1 2017 2017
NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES
CUI: C4693405
Disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES
1 0.925 0.160 5 61541917 stop gained C/T snv 0.700 0