KMT2C, lysine methyltransferase 2C, 58508

N. diseases: 114; N. variants: 11
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554580083
rs1554580083 		1.000 7 152250898 stop gained T/A snv
CUI: C4540395
Disease: KLEEFSTRA SYNDROME 2
KLEEFSTRA SYNDROME 2 		0.700 1.000 1 2017 2017
dbSNP: rs587777073
rs587777073 		1.000 7 152194506 stop gained G/A snv
CUI: C4540395
Disease: KLEEFSTRA SYNDROME 2
KLEEFSTRA SYNDROME 2 		0.700 1.000 1 2012 2012
dbSNP: rs779659766
rs779659766 		1.000 7 152177903 stop gained G/A;C snv 4.0E-06
CUI: C4540395
Disease: KLEEFSTRA SYNDROME 2
KLEEFSTRA SYNDROME 2 		0.700 1.000 1 2017 2017
dbSNP: rs1554477105
rs1554477105 		1.000 7 152162762 frameshift variant CTTT/- delins
CUI: C4540395
Disease: KLEEFSTRA SYNDROME 2
KLEEFSTRA SYNDROME 2 		0.700 0
dbSNP: rs1554496813
rs1554496813 		0.827 0.160 7 152177839 frameshift variant -/G delins
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554496813
rs1554496813 		0.827 0.160 7 152177839 frameshift variant -/G delins
CUI: C4021805
Disease: Abnormality of the nasal bridge
Abnormality of the nasal bridge 		0.700 0
dbSNP: rs1554496813
rs1554496813 		0.827 0.160 7 152177839 frameshift variant -/G delins
CUI: C1697450
Disease: obsolete Prominent epicanthal folds
obsolete Prominent epicanthal folds 		0.700 0
dbSNP: rs1554496813
rs1554496813 		0.827 0.160 7 152177839 frameshift variant -/G delins
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1554496813
rs1554496813 		0.827 0.160 7 152177839 frameshift variant -/G delins
CUI: C0566899
Disease: Small labia majora
Small labia majora 		0.700 0
dbSNP: rs1554496813
rs1554496813 		0.827 0.160 7 152177839 frameshift variant -/G delins
CUI: C4540395
Disease: KLEEFSTRA SYNDROME 2
KLEEFSTRA SYNDROME 2 		0.700 0
dbSNP: rs1554496813
rs1554496813 		0.827 0.160 7 152177839 frameshift variant -/G delins
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1554496813
rs1554496813 		0.827 0.160 7 152177839 frameshift variant -/G delins
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		0.700 0
dbSNP: rs1554505381
rs1554505381 		1.000 7 152183023 frameshift variant G/- delins
CUI: C4540395
Disease: KLEEFSTRA SYNDROME 2
KLEEFSTRA SYNDROME 2 		0.700 0
dbSNP: rs1563831738
rs1563831738 		7 152315168 stop gained G/C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs4725443
rs4725443 		0.925 0.120 7 152170176 intron variant T/C snv 9.3E-02
CUI: C0007107
Disease: Malignant neoplasm of larynx
Malignant neoplasm of larynx 		Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs4725443
rs4725443 		0.925 0.120 7 152170176 intron variant T/C snv 9.3E-02
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs6464211
rs6464211 		0.925 0.160 7 152176768 synonymous variant C/T snv 0.24 0.34
CUI: C0007107
Disease: Malignant neoplasm of larynx
Malignant neoplasm of larynx 		Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs6464211
rs6464211 		0.925 0.160 7 152176768 synonymous variant C/T snv 0.24 0.34
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs6943984
rs6943984 		0.925 0.120 7 152201919 intron variant G/A snv 0.11
CUI: C0007107
Disease: Malignant neoplasm of larynx
Malignant neoplasm of larynx 		Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs6943984
rs6943984 		0.925 0.120 7 152201919 intron variant G/A snv 0.11
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs74483926
rs74483926 		0.925 0.080 7 152162598 missense variant G/A snv 4.8E-02 3.4E-02
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs74483926
rs74483926 		0.925 0.080 7 152162598 missense variant G/A snv 4.8E-02 3.4E-02
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014