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: rs1233560
rs1233560 		1.000 0.120 7 155800744 3 prime UTR variant G/A snv 0.49
CUI: C1827293
Disease: Carcinoma of urinary bladder, invasive
Carcinoma of urinary bladder, invasive 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1554493607
rs1554493607 		1.000 0.120 7 155802982 stop gained G/T snv
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057518660
rs1057518660 		1.000 0.120 7 155803005 frameshift variant G/- delins
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
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: rs104894048
rs104894048 		0.925 0.120 7 155803019 missense variant G/C;T snv 3.7E-05
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
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: rs587778786
rs587778786 		1.000 0.120 7 155803063 inframe deletion CCCGCGGTCCCCGCC/- delins
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
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: rs397515376
rs397515376 		0.925 0.120 7 155803149 inframe deletion GCGCGAAGG/- delins
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs397515376
rs397515376 		0.925 0.120 7 155803149 inframe deletion GCGCGAAGG/- delins
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs886042458
rs886042458 		1.000 0.120 7 155803249 missense variant G/A;C snv
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
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: rs104894052
rs104894052 		0.925 0.160 7 155803294 missense variant A/G snv
CUI: C1840235
Disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.800 1.000 2 2001 2004
dbSNP: rs955894039
rs955894039 		1.000 0.120 7 155803402 missense variant C/G snv 1.4E-05
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554493810
rs1554493810 		1.000 0.120 7 155803416 frameshift variant GAGCCCGAGGACGCCTCGGGCTC/- delins
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
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: rs104894046
rs104894046 		0.925 0.120 7 155803439 stop gained C/A;T snv 1.5E-05
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104894046
rs104894046 		0.925 0.120 7 155803439 stop gained C/A;T snv 1.5E-05
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
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: rs397515375
rs397515375 		0.925 0.120 7 155803481 inframe deletion GCGGCGGTGAGCAGCAGGCGC/- delins
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs397515375
rs397515375 		0.925 0.120 7 155803481 inframe deletion GCGGCGGTGAGCAGCAGGCGC/- delins
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1420292012
rs1420292012 		1.000 0.120 7 155803493 missense variant G/A;T snv
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104894051
rs104894051 		0.925 0.120 7 155803523 stop gained C/A;G snv 1.5E-05
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104894051
rs104894051 		0.925 0.120 7 155803523 stop gained C/A;G snv 1.5E-05
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
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