rs118203918, CILK1

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.
Endocrine-Cerebroosteodysplasia
CUI: C2675227
Disease: Endocrine-Cerebroosteodysplasia
2 0.882 0.160 6 53016099 missense variant C/T snv 4.0E-06 0.800 0
Developmental Disabilities
CUI: C0008073
Disease: Developmental Disabilities
19 0.882 0.160 6 53016099 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
Endocrine-cerebro-osteodysplasia syndrome
CUI: C4509819
Disease: Endocrine-cerebro-osteodysplasia syndrome
1 0.882 0.160 6 53016099 missense variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018
Polydactyly
CUI: C0152427
Disease: Polydactyly
43 0.882 0.160 6 53016099 missense variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018
Respiratory distress
CUI: C0476273
Disease: Respiratory distress
16 0.882 0.160 6 53016099 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
Short extremities
CUI: C0239399
Disease: Short extremities
10 0.882 0.160 6 53016099 missense variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018