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: 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: 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: 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: 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: 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: 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: 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
dbSNP: rs104894044
rs104894044 		0.925 0.120 7 155811825 stop gained G/A snv
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104894045
rs104894045 		0.925 0.120 7 155806545 stop gained T/A snv
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: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		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: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104894050
rs104894050 		0.925 0.120 7 155811860 missense variant T/A snv
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: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs146990376
rs146990376 		1.000 0.120 7 155806384 stop gained G/A;C snv 1.2E-05
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs267607047
rs267607047 		0.925 0.120 7 155806513 missense variant G/A;T snv 4.0E-06
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs28936675
rs28936675 		0.925 0.120 7 155812032 missense variant C/T snv
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: 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: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		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