SIX3, SIX homeobox 3, 6496

N. diseases: 117; N. variants: 14
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: rs121917878
rs121917878
0.925 0.120 2 44942780 missense variant C/G snv
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 6 1999 2010
dbSNP: rs121917879
rs121917879
0.925 0.120 2 44942874 missense variant G/C snv
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 6 1999 2010
dbSNP: rs121917880
rs121917880
0.925 0.120 2 44942853 missense variant T/C snv
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 6 1999 2010
dbSNP: rs137853021
rs137853021
1.000 0.120 2 44942443 missense variant G/T snv
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 6 1999 2010
dbSNP: rs121917881
rs121917881
1.000 0.120 2 44942310 missense variant G/A snv 1.0E-04 1.6E-04
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 6 1999 2010
dbSNP: rs780942050
rs780942050
1.000 0.120 2 44944651 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 6 1999 2010
dbSNP: rs1553337688
rs1553337688
1.000 0.120 2 44942544 frameshift variant CCTCTACCACA/- delins
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1558420022
rs1558420022
1.000 0.120 2 44942611 stop gained G/A snv
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs387906867
rs387906867
0.925 0.120 2 44942489 stop gained G/T snv
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs397515502
rs397515502
1.000 0.120 2 44942800 frameshift variant CCCCAGCAAG/- del
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs989286015
rs989286015
1.000 0.120 2 44942834 missense variant G/T snv
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0