Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554580083
rs1554580083
KMT2C
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
KMT2C
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
KMT2C
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
KMT2C
1.000 7 152162762 frameshift variant CTTT/- delins
CUI: C4540395
Disease: KLEEFSTRA SYNDROME 2
KLEEFSTRA SYNDROME 2 		0.700 0
dbSNP: rs1554496813
rs1554496813
KMT2C
0.827 0.160 7 152177839 frameshift variant -/G delins
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs1554496813
rs1554496813
KMT2C
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
KMT2C
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
KMT2C
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
KMT2C
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
KMT2C
0.827 0.160 7 152177839 frameshift variant -/G delins
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.700 0
dbSNP: rs1554496813
rs1554496813
KMT2C
0.827 0.160 7 152177839 frameshift variant -/G delins
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		0.700 0
dbSNP: rs1554496813
rs1554496813
KMT2C
0.827 0.160 7 152177839 frameshift variant -/G delins
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		0.700 0
dbSNP: rs1554505381
rs1554505381
KMT2C
1.000 7 152183023 frameshift variant G/- delins
CUI: C4540395
Disease: KLEEFSTRA SYNDROME 2
KLEEFSTRA SYNDROME 2 		0.700 0
dbSNP: rs1563831738
rs1563831738
KMT2C
7 152315168 stop gained G/C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0