rs1554496813, KMT2C

N. diseases: 8
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.
Abnormality of the nasal bridge
CUI: C4021805
Disease: Abnormality of the nasal bridge
2 0.827 0.160 7 152177839 frameshift variant -/G delins 0.700 0
Arnold Chiari Malformation
CUI: C0003803
Disease: Arnold Chiari Malformation
4 0.827 0.160 7 152177839 frameshift variant -/G delins 0.700 0
Cleft palate, isolated
CUI: C1837218
Disease: Cleft palate, isolated
70 0.827 0.160 7 152177839 frameshift variant -/G delins 0.700 0
KLEEFSTRA SYNDROME 2
CUI: C4540395
Disease: KLEEFSTRA SYNDROME 2
6 0.827 0.160 7 152177839 frameshift variant -/G delins 0.700 0
Long palpebral fissure
CUI: C1849340
Disease: Long palpebral fissure
10 0.827 0.160 7 152177839 frameshift variant -/G delins 0.700 0
obsolete Prominent epicanthal folds
CUI: C1697450
Disease: obsolete Prominent epicanthal folds
2 0.827 0.160 7 152177839 frameshift variant -/G delins 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.827 0.160 7 152177839 frameshift variant -/G delins 0.700 0
Small labia majora
CUI: C0566899
Disease: Small labia majora
3 0.827 0.160 7 152177839 frameshift variant -/G delins 0.700 0