SHH, sonic hedgehog signaling molecule, 6469

N. diseases: 303; N. variants: 44
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: rs104894049
rs104894049
0.925 0.120 7 155806527 missense variant T/A snv
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.810 1.000 3 2001 2006
dbSNP: rs104894040
rs104894040
0.882 0.160 7 155806509 missense variant A/C;G snv
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 12 1996 2009
dbSNP: rs104894042
rs104894042
0.925 0.120 7 155803618 missense variant A/T snv
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 12 1996 2009
dbSNP: rs104894043
rs104894043
0.925 0.120 7 155803613 missense variant C/T snv 4.4E-05 5.6E-05
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 12 1996 2009
dbSNP: rs104894048
rs104894048
0.925 0.120 7 155803019 missense variant G/C;T snv 3.7E-05
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 12 1996 2009
dbSNP: rs104894050
rs104894050
0.925 0.120 7 155811860 missense variant T/A snv
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 12 1996 2009
dbSNP: rs267607047
rs267607047
0.925 0.120 7 155806513 missense variant G/A;T snv 4.0E-06
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 12 1996 2009
dbSNP: rs104894052
rs104894052
0.925 0.160 7 155803294 missense variant A/G snv
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.800 1.000 2 2001 2004
dbSNP: rs587778792
rs587778792
0.925 0.120 7 155811823 missense variant C/G snv
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 1 2005 2005
dbSNP: rs587778799
rs587778799
0.925 0.120 7 155806296 missense variant C/G snv
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 1 2005 2005
dbSNP: rs104894047
rs104894047
1.000 0.120 7 155803420 missense variant C/T snv 3.3E-03 2.0E-03
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 12 1996 2009
dbSNP: rs104894052
rs104894052
0.925 0.160 7 155803294 missense variant A/G snv
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 12 1996 2009
dbSNP: rs137853341
rs137853341
1.000 0.120 7 155803142 missense variant C/T snv 1.4E-05 1.4E-05
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 12 1996 2009
dbSNP: rs1412744230
rs1412744230
1.000 0.120 7 155803043 missense variant T/C snv
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 12 1996 2009
dbSNP: rs1428916820
rs1428916820
1.000 0.120 7 155812007 missense variant A/G snv
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 12 1996 2009
dbSNP: rs1554494372
rs1554494372
1.000 0.120 7 155806390 missense variant G/T snv
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 12 1996 2009
dbSNP: rs556192490
rs556192490
1.000 0.120 7 155803465 missense variant G/A;T snv 1.3E-05; 8.5E-05
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 12 1996 2009
dbSNP: rs587778792
rs587778792
0.925 0.120 7 155811823 missense variant C/G snv
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 12 1996 2009
dbSNP: rs587778799
rs587778799
0.925 0.120 7 155806296 missense variant C/G snv
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 12 1996 2009
dbSNP: rs587778805
rs587778805
0.925 0.120 7 155803625 missense variant C/T snv 7.0E-06
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 12 1996 2009
dbSNP: rs587778806
rs587778806
0.925 0.120 7 155803581 missense variant G/T snv
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 12 1996 2009
dbSNP: rs752650571
rs752650571
1.000 0.120 7 155803702 missense variant C/T snv 4.4E-06
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 12 1996 2009
dbSNP: rs104894040
rs104894040
0.882 0.160 7 155806509 missense variant A/C;G snv
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104894042
rs104894042
0.925 0.120 7 155803618 missense variant A/T snv
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104894043
rs104894043
0.925 0.120 7 155803613 missense variant C/T snv 4.4E-05 5.6E-05
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0