rs121908425, EVC;CRMP1

N. diseases: 14
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.
Ellis-Van Creveld Syndrome
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
121 0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 0.700 1.000 3 2000 2018
Weyers acrofacial dysostosis
CUI: C0457013
Disease: Weyers acrofacial dysostosis
21 0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 0.700 1.000 3 2000 2018
Aplasia/Hypoplasia involving the pelvis
CUI: C4024597
Disease: Aplasia/Hypoplasia involving the pelvis
13 0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 0.700 0
Majewski Syndrome
CUI: C0024507
Disease: Majewski Syndrome
31 0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 0.700 0
Polydactyly
CUI: C0152427
Disease: Polydactyly
43 0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 0.700 0
Short long bone
CUI: C1854912
Disease: Short long bone
19 0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 0.700 0
Short ribs
CUI: C0426817
Disease: Short ribs
27 0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 0.700 0
Single transverse palmar crease
CUI: C0424731
Disease: Single transverse palmar crease
14 0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 0.700 0
Syndactyly of the toes
CUI: C0265660
Disease: Syndactyly of the toes
11 0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 0.700 0
Thoracic hypoplasia
CUI: C1837482
Disease: Thoracic hypoplasia
16 0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 0.700 0
Upward slant of palpebral fissure
CUI: C0423109
Disease: Upward slant of palpebral fissure
16 0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 0.700 0
Vertical Talus
CUI: C0240912
Disease: Vertical Talus
20 0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 0.700 0