rs1085308047, PTEN;KLLN

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.
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
78 0.827 0.160 10 87864509 missense variant A/G snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.160 10 87864509 missense variant A/G snv 0.700 0
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.827 0.160 10 87864509 missense variant A/G snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.827 0.160 10 87864509 missense variant A/G snv 0.700 0
Melanocytic nevus
CUI: C0027962
Disease: Melanocytic nevus
33 0.827 0.160 10 87864509 missense variant A/G snv 0.700 0
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
194 0.827 0.160 10 87864509 missense variant A/G snv 0.700 0