KMT2C, lysine methyltransferase 2C, 58508

N. diseases: 114; N. variants: 11
Disease: KLEEFSTRA SYNDROME 2 ×
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: C4540395
Disease: KLEEFSTRA SYNDROME 2
KLEEFSTRA SYNDROME 2 		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