rs1553538917, SATB2

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.
Downturned corners of mouth
CUI: C1866195
Disease: Downturned corners of mouth
14 0.882 0.120 2 199272423 stop gained G/A snv 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.882 0.120 2 199272423 stop gained G/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.120 2 199272423 stop gained G/A snv 0.700 0
Hyperplasia of midface
CUI: C0240309
Disease: Hyperplasia of midface
2 0.882 0.120 2 199272423 stop gained G/A snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.882 0.120 2 199272423 stop gained G/A snv 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.882 0.120 2 199272423 stop gained G/A snv 0.700 0
Speech articulation difficulties
CUI: C1865313
Disease: Speech articulation difficulties
3 0.882 0.120 2 199272423 stop gained G/A snv 0.700 0