rs786204849, FIBP

N. diseases: 7
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.
Congenital anomaly of face
CUI: C0266617
Disease: Congenital anomaly of face
7 0.882 0.200 11 65885181 stop gained G/A snv 0.700 0
Congenital ocular coloboma (disorder)
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
21 0.882 0.200 11 65885181 stop gained G/A snv 0.700 0
Large hand
CUI: C0426870
Disease: Large hand
7 0.882 0.200 11 65885181 stop gained G/A snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.882 0.200 11 65885181 stop gained G/A snv 0.700 0
Learning Disabilities
CUI: C0751265
Disease: Learning Disabilities
5 0.882 0.200 11 65885181 stop gained G/A snv 0.700 0
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 0.882 0.200 11 65885181 stop gained G/A snv 0.700 0
THAUVIN-ROBINET-FAIVRE SYNDROME
CUI: C4310715
Disease: THAUVIN-ROBINET-FAIVRE SYNDROME
2 0.882 0.200 11 65885181 stop gained G/A snv 0.700 0