rs769705065, CLUAP1

N. diseases: 5
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.
2-3 toe syndactyly
CUI: C4551570
Disease: 2-3 toe syndactyly
16 0.882 0.160 16 3520011 stop gained C/T snv 7.0E-06 0.700 1.000 1 2017 2017
Abnormality of the dentition
CUI: C0262444
Disease: Abnormality of the dentition
16 0.882 0.160 16 3520011 stop gained C/T snv 7.0E-06 0.700 1.000 1 2017 2017
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
187 0.882 0.160 16 3520011 stop gained C/T snv 7.0E-06 0.700 1.000 1 2017 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.160 16 3520011 stop gained C/T snv 7.0E-06 0.700 1.000 1 2017 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.882 0.160 16 3520011 stop gained C/T snv 7.0E-06 0.700 1.000 1 2017 2017