KDM6A, lysine demethylase 6A, 7403

N. diseases: 238; N. variants: 22
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: rs1556308480
rs1556308480
1.000 X 45059287 stop gained C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 17 1998 2016
dbSNP: rs1556308480
rs1556308480
1.000 X 45059287 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 17 1998 2016
dbSNP: rs1135401809
rs1135401809
1.000 X 45076827 splice donor variant G/A;C snv
CUI: C3275495
Disease: KABUKI SYNDROME 2
KABUKI SYNDROME 2
0.700 1.000 2 2013 2016
dbSNP: rs1569537333
rs1569537333
1.000 X 45078507 splice donor variant T/C snv
CUI: C3275495
Disease: KABUKI SYNDROME 2
KABUKI SYNDROME 2
0.700 1.000 1 2013 2013
dbSNP: rs793888509
rs793888509
1.000 X 45053832 stop gained G/A snv
CUI: C3275495
Disease: KABUKI SYNDROME 2
KABUKI SYNDROME 2
0.700 1.000 1 2015 2015
dbSNP: rs793888510
rs793888510
1.000 X 45089932 splice donor variant T/C snv
CUI: C3275495
Disease: KABUKI SYNDROME 2
KABUKI SYNDROME 2
0.700 1.000 1 2015 2015
dbSNP: rs1060499665
rs1060499665
1.000 X 45089792 missense variant C/T snv
CUI: C3275495
Disease: KABUKI SYNDROME 2
KABUKI SYNDROME 2
0.700 0
dbSNP: rs1555957146
rs1555957146
1.000 0.120 X 44873613 frameshift variant A/- del
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1556311265
rs1556311265
1.000 X 45061385 frameshift variant -/TCAT delins
CUI: C3275495
Disease: KABUKI SYNDROME 2
KABUKI SYNDROME 2
0.700 0
dbSNP: rs1556328781
rs1556328781
1.000 X 45069754 frameshift variant -/TCTC delins
CUI: C3275495
Disease: KABUKI SYNDROME 2
KABUKI SYNDROME 2
0.700 0
dbSNP: rs1556330304
rs1556330304
1.000 X 45070117 frameshift variant CA/- del
CUI: C3275495
Disease: KABUKI SYNDROME 2
KABUKI SYNDROME 2
0.700 0
dbSNP: rs1556341546
rs1556341546
1.000 X 45079223 stop gained C/T snv
CUI: C3275495
Disease: KABUKI SYNDROME 2
KABUKI SYNDROME 2
0.700 0
dbSNP: rs1556357274
rs1556357274
1.000 X 45090755 stop gained G/T snv
CUI: C3275495
Disease: KABUKI SYNDROME 2
KABUKI SYNDROME 2
0.700 0
dbSNP: rs1569542167
rs1569542167
1.000 X 45107472 frameshift variant -/A delins
CUI: C3275495
Disease: KABUKI SYNDROME 2
KABUKI SYNDROME 2
0.700 0
dbSNP: rs397514628
rs397514628
1.000 X 45063449 stop gained C/G;T snv 1.1E-05
CUI: C3275495
Disease: KABUKI SYNDROME 2
KABUKI SYNDROME 2
0.700 0
dbSNP: rs398122829
rs398122829
1.000 X 45083526 inframe deletion TCT/- delins
CUI: C3275495
Disease: KABUKI SYNDROME 2
KABUKI SYNDROME 2
0.700 0
dbSNP: rs398122929
rs398122929
1.000 X 45089911 stop gained G/A snv
CUI: C3275495
Disease: KABUKI SYNDROME 2
KABUKI SYNDROME 2
0.700 0
dbSNP: rs398122969
rs398122969
1.000 X 45063800 frameshift variant TCTA/- delins
CUI: C3275495
Disease: KABUKI SYNDROME 2
KABUKI SYNDROME 2
0.700 0
dbSNP: rs786205676
rs786205676
1.000 X 45070167 frameshift variant AACA/- delins
CUI: C3275495
Disease: KABUKI SYNDROME 2
KABUKI SYNDROME 2
0.700 0
dbSNP: rs797045642
rs797045642
1.000 X 45063437 frameshift variant G/- del
CUI: C3275495
Disease: KABUKI SYNDROME 2
KABUKI SYNDROME 2
0.700 0
dbSNP: rs797045643
rs797045643
1.000 X 45076827 splice donor variant -/T delins
CUI: C3275495
Disease: KABUKI SYNDROME 2
KABUKI SYNDROME 2
0.700 0
dbSNP: rs797045644
rs797045644
1.000 X 45089829 missense variant A/G snv
CUI: C3275495
Disease: KABUKI SYNDROME 2
KABUKI SYNDROME 2
0.700 0
dbSNP: rs863224886
rs863224886
1.000 X 45090821 stop gained C/T snv
CUI: C3275495
Disease: KABUKI SYNDROME 2
KABUKI SYNDROME 2
0.700 0