rs1555038111, KMT2A

N. diseases: 37
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.
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Neonatal respiratory distress
CUI: C4281993
Disease: Neonatal respiratory distress
34 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Oral aversion
CUI: C3665983
Disease: Oral aversion
4 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Prolonged neonatal jaundice
CUI: C1859236
Disease: Prolonged neonatal jaundice
14 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Protuberant abdomen
CUI: C1854928
Disease: Protuberant abdomen
2 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Sacral dimple
CUI: C0426848
Disease: Sacral dimple
11 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Small midface
CUI: C2673410
Disease: Small midface
24 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Social Communication Disorder
CUI: C0150080
Disease: Social Communication Disorder
4 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Trigonocephaly
CUI: C0265535
Disease: Trigonocephaly
7 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Wide spaced nipples
CUI: C1827524
Disease: Wide spaced nipples
19 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0