rs1561964103, TFAP2B

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.
Broad forehead
CUI: C1849089
Disease: Broad forehead
13 0.882 0.080 6 50836108 frameshift variant G/- delins 0.700 0
Broad nasal tip
CUI: C0426429
Disease: Broad nasal tip
8 0.882 0.080 6 50836108 frameshift variant G/- delins 0.700 0
CHAR SYNDROME
CUI: C1868570
Disease: CHAR SYNDROME
9 0.882 0.080 6 50836108 frameshift variant G/- delins 0.700 0
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.882 0.080 6 50836108 frameshift variant G/- delins 0.700 0
Highly arched eyebrow
CUI: C1868571
Disease: Highly arched eyebrow
14 0.882 0.080 6 50836108 frameshift variant G/- delins 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.882 0.080 6 50836108 frameshift variant G/- delins 0.700 0
Short philtrum
CUI: C1861324
Disease: Short philtrum
25 0.882 0.080 6 50836108 frameshift variant G/- delins 0.700 0