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: 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: 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: 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: rs587778788
rs587778788 		1.000 0.120 7 155812113 frameshift variant -/CAGC delins
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587778789
rs587778789 		1.000 0.120 7 155812078 frameshift variant GACGAGGA/- delins
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587778803
rs587778803 		1.000 0.120 7 155803664 stop gained G/A;C snv
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587778805
rs587778805 		0.925 0.120 7 155803625 missense variant C/T snv 7.0E-06
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		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: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs779093031
rs779093031 		1.000 0.120 7 155811909 stop gained G/A;T snv 1.6E-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 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: 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: 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: rs104894040
rs104894040 		0.882 0.160 7 155806509 missense variant A/C;G snv
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs104894040
rs104894040 		0.882 0.160 7 155806509 missense variant A/C;G snv
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs104894049
rs104894049 		0.925 0.120 7 155806527 missense variant T/A snv
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs104894049
rs104894049 		0.925 0.120 7 155806527 missense variant T/A snv
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		Neoplasms 0.010 1.000 1 2016 2016
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: rs208684
rs208684 		1.000 0.120 7 155814463 upstream gene variant C/A snv 0.75
CUI: C4721666
Disease: Bladder cancer stage IV
Bladder cancer stage IV 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs780893190
rs780893190 		1.000 0.080 7 155803713 synonymous variant C/T snv 8.8E-06 3.5E-05
CUI: C0007129
Disease: Merkel cell carcinoma
Merkel cell carcinoma 		Neoplasms; Infections 0.010 1.000 1 2017 2017
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: rs104894049
rs104894049 		0.925 0.120 7 155806527 missense variant T/A snv
CUI: C1840235
Disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
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